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Human Mutation Volume 10 Issue 3

2013
- Volume 34
2012
- Volume 33
2011
- Volume 32
2010
- Volume 31
2009
- Volume 30
2008
- Volume 29
2007
- Volume 28
2006
- Volume 27
2005
- Volume 26
- Volume 25
2004
- Volume 24
- Volume 23
2003
- Volume 22
- Volume 21
2002
- Volume 20
- Volume 19
2001
- Volume 18
- Volume 17
2000
- Volume 16
- Volume 15
1999
- Volume 14
- Volume 13
1998
- Volume 12
- Volume 11
1997
- Volume 10
- Volume 9
1996
- Volume 8
- Volume 7
1995
- Volume 6
- Volume 5
1994
- Volume 4
- Volume 3
1993
- Volume 2
1992
- Volume 1

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Identification of 31 novel mutations in the N‐acetylgalactosamine‐6‐sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

Bunge, Susanna; Kleijer, Wim J.; Tylki‐Szymanska, Anna; Steglich, Cordula; Beck, Michael; Tomatsu, Shunji; Fukuda, Seiji; Poorthuis, Ben J. H. M.; Czartoryska, Barbara; Orii, Tadao; Gal, Andreas

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997
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A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

Foubert, Luc; Bruin, Taco; Gennes, Jean Luc De; Ehrenborg, Ewa; Furioli, Jean; Kastelein, John; Benlian, Pascale; Hayden, Michael

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997
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Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT

Messiaen, Ludwine; Loon, Conny Van; Rossau, Rudi; Canck, Ilse De; Baets, Frans De; Robbrecht, Eddy; Paepe, Anne De

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997
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Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence

Elpeleg, Orly N.; Shaag, Avraham; Glustein, Joseph Z.; Anikster, Yair; Joseph, Adina; Saada, Ann

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997
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Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patients

Orozco, Lorena; Zielenski, Julian; Markiewicz, Danuta; Villarreal, Teresa; Tsui, Lap‐Chee; Lezana, José Luis; Angel, Rosa M del

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997
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Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: A novel mutation in exon 3

Żekanowski, Cezary; Cabalska, Barbara; Borsuk, Piotr; Bal, Jerzy

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997
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Human APRT deficiency: Indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand‐templated repair

Menardi, Claudia; Schneider, Rainer; Neuschmid‐Kaspar, Felizia; Klocker, Helmut; Hirsch‐Kauffmann, Monica; Auer, Bernhard; Schweiger, Manfred

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997
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E280A PS‐1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles

Lendon, Corinne L.; Martinez, Alonso; Behrens, Isabel Maria; Kosik, Kenneth S.; Madrigal, Lucia; Norton, Joanne; Neuman, Rosalind; Myers, Amanda; Busfield, Frances; Wragg, Michelle; Arcos, Mauricio; Viana, Juan Carlos Arango; Ossa, Jorge; Ruiz, Andres; Goate, Alison M.; Lopera, Francisco

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997
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Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency

Barrientos, Antoni; Casademont, Jordi; Genís, David; Cardellach, Francesc; Fernández‐Real, José Manuel; Grau, José María; Urbano‐Márquez, Alvaro; Estivill, Xavier; Nunes, Virginia

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997
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G6PD Sumaré: A novel mutation in the G6PD gene (1292 T→G) associated with chronic nonspherocytic anemia

Saad, Sara T. O.; Salles, Tereza S. I.; Arruda, Valder R.; Sonati, M. Fatima; Costa, Fernando F.

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Human Mutation Volume 10 Issue 3

Identification of 31 novel mutations in the N‐acetylgalactosamine‐6‐sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

Bunge, Susanna; Kleijer, Wim J.; Tylki‐Szymanska, Anna; Steglich, Cordula; Beck, Michael; Tomatsu, Shunji; Fukuda, Seiji; Poorthuis, Ben J. H. M.; Czartoryska, Barbara; Orii, Tadao; Gal, Andreas

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

Foubert, Luc; Bruin, Taco; Gennes, Jean Luc De; Ehrenborg, Ewa; Furioli, Jean; Kastelein, John; Benlian, Pascale; Hayden, Michael

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT

Messiaen, Ludwine; Loon, Conny Van; Rossau, Rudi; Canck, Ilse De; Baets, Frans De; Robbrecht, Eddy; Paepe, Anne De

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence

Elpeleg, Orly N.; Shaag, Avraham; Glustein, Joseph Z.; Anikster, Yair; Joseph, Adina; Saada, Ann

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patients

Orozco, Lorena; Zielenski, Julian; Markiewicz, Danuta; Villarreal, Teresa; Tsui, Lap‐Chee; Lezana, José Luis; Angel, Rosa M del

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: A novel mutation in exon 3

Żekanowski, Cezary; Cabalska, Barbara; Borsuk, Piotr; Bal, Jerzy

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Human APRT deficiency: Indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand‐templated repair

Menardi, Claudia; Schneider, Rainer; Neuschmid‐Kaspar, Felizia; Klocker, Helmut; Hirsch‐Kauffmann, Monica; Auer, Bernhard; Schweiger, Manfred

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

E280A PS‐1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles

Lendon, Corinne L.; Martinez, Alonso; Behrens, Isabel Maria; Kosik, Kenneth S.; Madrigal, Lucia; Norton, Joanne; Neuman, Rosalind; Myers, Amanda; Busfield, Frances; Wragg, Michelle; Arcos, Mauricio; Viana, Juan Carlos Arango; Ossa, Jorge; Ruiz, Andres; Goate, Alison M.; Lopera, Francisco

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency

Barrientos, Antoni; Casademont, Jordi; Genís, David; Cardellach, Francesc; Fernández‐Real, José Manuel; Grau, José María; Urbano‐Márquez, Alvaro; Estivill, Xavier; Nunes, Virginia

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

G6PD Sumaré: A novel mutation in the G6PD gene (1292 T→G) associated with chronic nonspherocytic anemia

Saad, Sara T. O.; Salles, Tereza S. I.; Arruda, Valder R.; Sonati, M. Fatima; Costa, Fernando F.

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

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Human Mutation Volume 10 Issue 3

1 - 10 of 17 articles

Bunge, Susanna; Kleijer, Wim J.; Tylki‐Szymanska, Anna; Steglich, Cordula; Beck, Michael; Tomatsu, Shunji; Fukuda, Seiji; Poorthuis, Ben J. H. M.; Czartoryska, Barbara; Orii, Tadao; Gal, Andreas

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Foubert, Luc; Bruin, Taco; Gennes, Jean Luc De; Ehrenborg, Ewa; Furioli, Jean; Kastelein, John; Benlian, Pascale; Hayden, Michael

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Messiaen, Ludwine; Loon, Conny Van; Rossau, Rudi; Canck, Ilse De; Baets, Frans De; Robbrecht, Eddy; Paepe, Anne De

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Elpeleg, Orly N.; Shaag, Avraham; Glustein, Joseph Z.; Anikster, Yair; Joseph, Adina; Saada, Ann

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Orozco, Lorena; Zielenski, Julian; Markiewicz, Danuta; Villarreal, Teresa; Tsui, Lap‐Chee; Lezana, José Luis; Angel, Rosa M del

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Żekanowski, Cezary; Cabalska, Barbara; Borsuk, Piotr; Bal, Jerzy

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Menardi, Claudia; Schneider, Rainer; Neuschmid‐Kaspar, Felizia; Klocker, Helmut; Hirsch‐Kauffmann, Monica; Auer, Bernhard; Schweiger, Manfred

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Lendon, Corinne L.; Martinez, Alonso; Behrens, Isabel Maria; Kosik, Kenneth S.; Madrigal, Lucia; Norton, Joanne; Neuman, Rosalind; Myers, Amanda; Busfield, Frances; Wragg, Michelle; Arcos, Mauricio; Viana, Juan Carlos Arango; Ossa, Jorge; Ruiz, Andres; Goate, Alison M.; Lopera, Francisco

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Barrientos, Antoni; Casademont, Jordi; Genís, David; Cardellach, Francesc; Fernández‐Real, José Manuel; Grau, José María; Urbano‐Márquez, Alvaro; Estivill, Xavier; Nunes, Virginia

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997

Saad, Sara T. O.; Salles, Tereza S. I.; Arruda, Valder R.; Sonati, M. Fatima; Costa, Fernando F.

Follow Human Mutation , Volume 10 (3) Wiley – Jan 1, 1997