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Human Mutation Volume 12 Issue 1

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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Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes

Mottes, Monica; Lira, Macarena Gomez; Zolezzi, Francesca; Valli, Maurizia; Lisi, Veronica; Freising, Peter

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998
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Pooled analysis of p53 mutations in hematological malignancies

Prokocimer, Miron; Unger, Ron; Rennert, Hedy S.; Rotter, Varda; Rennert, Gad

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998
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Mutations of the cationic trypsinogen in hereditary pancreatitis

Teich, Niels; Mössner, Joachim; Keim, Volker

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998
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Spectrum of mutations in Finnish patients with Charcot‐Marie‐Tooth disease and related neuropathies

Silander, Kaisa; Meretoja, Päivi; Juvonen, Vesa; Ignatius, Jaakko; Pihko, Helena; Saarinen, Ari; Wallden, Tiina; Herrgård, Eila; Aula, Pertti; Savontaus, Marja‐Liisa

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998
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A frequent mutation in the acidic proline‐rich protein gene, PRH2, causing a Q147K change closely adjacent to the bacterial binding domain of the cognate salivary PRP (Pr1′) in Afro‐Americans

Azen, Edwin A.

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998
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Variable penetrance of familial pheochromocytoma associated with the von Hippel Lindau gene mutation, S68W

Martin, Roger; Hockey, Athel; Walpole, Ian; Goldblatt, Jack

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998
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Molecular diagnosis of McArdle disease: Revised genomic structure of the myophosphorylase gene and identification of a novel mutation

Kubisch, Christian; Wicklein, Eva M.; Jentsch, Thomas J.

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998
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New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy

Misrahi, AM; Plante, V; Lalu, T; Serre, I; Adams, D; Lacroix, DC; Saïd, G

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998
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Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries

Bergman, AJIW; van den Berg, IET; Brink, W; Poll‐The, BT; Ploos van Amstel, JK; Berger, R

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998
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Different missense mutations in histidine‐108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals

Ries, Stefan; Büchler, Christa; Schindler, Gisela; Aslanidis, Charalampos; Ameis, Detlev; Gasche, Christoph; Jung, Nikola; Schambach, Axel; Fehringer, Petra; Vanier, Marie T.; Belli, Dominique C.; Greten, Heiner; Schmitz, Gerd

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Human Mutation Volume 12 Issue 1

Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes

Mottes, Monica; Lira, Macarena Gomez; Zolezzi, Francesca; Valli, Maurizia; Lisi, Veronica; Freising, Peter

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Pooled analysis of p53 mutations in hematological malignancies

Prokocimer, Miron; Unger, Ron; Rennert, Hedy S.; Rotter, Varda; Rennert, Gad

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Mutations of the cationic trypsinogen in hereditary pancreatitis

Teich, Niels; Mössner, Joachim; Keim, Volker

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Spectrum of mutations in Finnish patients with Charcot‐Marie‐Tooth disease and related neuropathies

Silander, Kaisa; Meretoja, Päivi; Juvonen, Vesa; Ignatius, Jaakko; Pihko, Helena; Saarinen, Ari; Wallden, Tiina; Herrgård, Eila; Aula, Pertti; Savontaus, Marja‐Liisa

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

A frequent mutation in the acidic proline‐rich protein gene, PRH2, causing a Q147K change closely adjacent to the bacterial binding domain of the cognate salivary PRP (Pr1′) in Afro‐Americans

Azen, Edwin A.

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Variable penetrance of familial pheochromocytoma associated with the von Hippel Lindau gene mutation, S68W

Martin, Roger; Hockey, Athel; Walpole, Ian; Goldblatt, Jack

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Molecular diagnosis of McArdle disease: Revised genomic structure of the myophosphorylase gene and identification of a novel mutation

Kubisch, Christian; Wicklein, Eva M.; Jentsch, Thomas J.

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy

Misrahi, AM; Plante, V; Lalu, T; Serre, I; Adams, D; Lacroix, DC; Saïd, G

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries

Bergman, AJIW; van den Berg, IET; Brink, W; Poll‐The, BT; Ploos van Amstel, JK; Berger, R

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Different missense mutations in histidine‐108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals

Ries, Stefan; Büchler, Christa; Schindler, Gisela; Aslanidis, Charalampos; Ameis, Detlev; Gasche, Christoph; Jung, Nikola; Schambach, Axel; Fehringer, Petra; Vanier, Marie T.; Belli, Dominique C.; Greten, Heiner; Schmitz, Gerd

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

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Human Mutation Volume 12 Issue 1

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Mottes, Monica; Lira, Macarena Gomez; Zolezzi, Francesca; Valli, Maurizia; Lisi, Veronica; Freising, Peter

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Prokocimer, Miron; Unger, Ron; Rennert, Hedy S.; Rotter, Varda; Rennert, Gad

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Teich, Niels; Mössner, Joachim; Keim, Volker

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Silander, Kaisa; Meretoja, Päivi; Juvonen, Vesa; Ignatius, Jaakko; Pihko, Helena; Saarinen, Ari; Wallden, Tiina; Herrgård, Eila; Aula, Pertti; Savontaus, Marja‐Liisa

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Martin, Roger; Hockey, Athel; Walpole, Ian; Goldblatt, Jack

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Kubisch, Christian; Wicklein, Eva M.; Jentsch, Thomas J.

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Misrahi, AM; Plante, V; Lalu, T; Serre, I; Adams, D; Lacroix, DC; Saïd, G

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Bergman, AJIW; van den Berg, IET; Brink, W; Poll‐The, BT; Ploos van Amstel, JK; Berger, R

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998

Ries, Stefan; Büchler, Christa; Schindler, Gisela; Aslanidis, Charalampos; Ameis, Detlev; Gasche, Christoph; Jung, Nikola; Schambach, Axel; Fehringer, Petra; Vanier, Marie T.; Belli, Dominique C.; Greten, Heiner; Schmitz, Gerd

Follow Human Mutation , Volume 12 (1) Wiley – Jan 1, 1998