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Human Mutation Volume 9 Issue 4

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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Single‐step DGGE‐based mutation scanning of the p53 gene: Application to genetic diagnosis of colorectal cancer

Guldberg, Per; Nedergaard, Trine; Nielsen, Hans Jørgen; Olsen, Anna Catharina; Ahrenkiel, Vibeke; Zeuthen, Jesper

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997
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Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview

St‐Louis, Maryse; Tanguay, Robert M.

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997
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New evidence for a mutation hotspot in exon 37 of the NF1 gene

Böddrich, Annett; Robinson, Peter N.; Schülke, Markus; Buske, Annegret; Tinschert, Sigrid; Nürnberg, Peter

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997
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Serine for glycine substitutions in the C‐terminal third of the ॅ1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta

Lund, Allan M.; Skovby, Flemming; Schwartz, Marianne

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997
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Detection of mutations in multi‐exon genes: Comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations

Ganguly, Arupa; Williams, Charlene

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997
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Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques

Gismondi, Viviana; Bafico, Anna; Biticchi, Roberta; Pedemonte, Simona; Molina, Francesco; Heouaine, Abdelhamid; Sala, Paola; Bertario, Lucio; Presciuttini, Silvano; Strigini, Paolo; Groden, Joanna; Varesco, Liliana

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997
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Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and खM1140

Clavel, Christine; Pennaforte, François; Pigeon, Frédérique; Verlingue, Claudine; Birembaut, Philippe; Férec, Claude

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997
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Mutations in fibrillar collagens (types I, II, III, and XI), fibril‐associated collagen (type IX), and network‐forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

Kuivaniemi, Helena; Tromp, Gerard; Prockop, Darwin J.

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997
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ै‐Thalassemic phenotype due to two “novel” ै‐globin gene mutations: CD11(GTC → GGC (A8)‐HbA 2 ‐pylos) and CD 85 (TTT → TCT (F1)‐HbA 2 ‐etolia)

Drakoulakou, Olga; Papapanagiotou, Elisavet; Loutradi‐Anagnostou, Afrodite; Papadakis, Manoussos

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997
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Mutations in the XPD gene leading to xeroderma pigmentosum symptoms

Kobayashi, Takehiro; Kuraoka, Isao; Saijo, Masafumi; Nakatsu, Yoshimichi; Tanaka, Akemi; Someda, Yukiko; Fukuro, Shuhei; Tanaka, Kiyoji

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Human Mutation Volume 9 Issue 4

Single‐step DGGE‐based mutation scanning of the p53 gene: Application to genetic diagnosis of colorectal cancer

Guldberg, Per; Nedergaard, Trine; Nielsen, Hans Jørgen; Olsen, Anna Catharina; Ahrenkiel, Vibeke; Zeuthen, Jesper

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview

St‐Louis, Maryse; Tanguay, Robert M.

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

New evidence for a mutation hotspot in exon 37 of the NF1 gene

Böddrich, Annett; Robinson, Peter N.; Schülke, Markus; Buske, Annegret; Tinschert, Sigrid; Nürnberg, Peter

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Serine for glycine substitutions in the C‐terminal third of the ॅ1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta

Lund, Allan M.; Skovby, Flemming; Schwartz, Marianne

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Detection of mutations in multi‐exon genes: Comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations

Ganguly, Arupa; Williams, Charlene

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques

Gismondi, Viviana; Bafico, Anna; Biticchi, Roberta; Pedemonte, Simona; Molina, Francesco; Heouaine, Abdelhamid; Sala, Paola; Bertario, Lucio; Presciuttini, Silvano; Strigini, Paolo; Groden, Joanna; Varesco, Liliana

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and खM1140

Clavel, Christine; Pennaforte, François; Pigeon, Frédérique; Verlingue, Claudine; Birembaut, Philippe; Férec, Claude

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Mutations in fibrillar collagens (types I, II, III, and XI), fibril‐associated collagen (type IX), and network‐forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

Kuivaniemi, Helena; Tromp, Gerard; Prockop, Darwin J.

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

ै‐Thalassemic phenotype due to two “novel” ै‐globin gene mutations: CD11(GTC → GGC (A8)‐HbA 2 ‐pylos) and CD 85 (TTT → TCT (F1)‐HbA 2 ‐etolia)

Drakoulakou, Olga; Papapanagiotou, Elisavet; Loutradi‐Anagnostou, Afrodite; Papadakis, Manoussos

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Mutations in the XPD gene leading to xeroderma pigmentosum symptoms

Kobayashi, Takehiro; Kuraoka, Isao; Saijo, Masafumi; Nakatsu, Yoshimichi; Tanaka, Akemi; Someda, Yukiko; Fukuro, Shuhei; Tanaka, Kiyoji

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

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Human Mutation Volume 9 Issue 4

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Guldberg, Per; Nedergaard, Trine; Nielsen, Hans Jørgen; Olsen, Anna Catharina; Ahrenkiel, Vibeke; Zeuthen, Jesper

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

St‐Louis, Maryse; Tanguay, Robert M.

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Böddrich, Annett; Robinson, Peter N.; Schülke, Markus; Buske, Annegret; Tinschert, Sigrid; Nürnberg, Peter

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Lund, Allan M.; Skovby, Flemming; Schwartz, Marianne

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Ganguly, Arupa; Williams, Charlene

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Gismondi, Viviana; Bafico, Anna; Biticchi, Roberta; Pedemonte, Simona; Molina, Francesco; Heouaine, Abdelhamid; Sala, Paola; Bertario, Lucio; Presciuttini, Silvano; Strigini, Paolo; Groden, Joanna; Varesco, Liliana

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Clavel, Christine; Pennaforte, François; Pigeon, Frédérique; Verlingue, Claudine; Birembaut, Philippe; Férec, Claude

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Kuivaniemi, Helena; Tromp, Gerard; Prockop, Darwin J.

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Drakoulakou, Olga; Papapanagiotou, Elisavet; Loutradi‐Anagnostou, Afrodite; Papadakis, Manoussos

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997

Kobayashi, Takehiro; Kuraoka, Isao; Saijo, Masafumi; Nakatsu, Yoshimichi; Tanaka, Akemi; Someda, Yukiko; Fukuro, Shuhei; Tanaka, Kiyoji

Follow Human Mutation , Volume 9 (4) Wiley – Jan 1, 1997