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Human Mutation Volume 8 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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Mutations and Polymorphisms in the familial early‐onset breast cancer ( BRCA1 ) gene

Couch, Fergus J.; Weber, Barbara L.

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996
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Masthead

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996
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Somatic stability of the expanded CAG trinucleotide repeat in X‐linked spinal and bulbar muscular atrophy

Spiegel, Roland; La Spada, Albert R.; Kress, Wolfram; Fischbeck, Kenneth H.; Schmid, Werner

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996
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New mutation in the 3′‐acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

Reig, Carlos; Alvarez, Ana‐Isabel; Tejada, Isabel; Molina, Manuel; Aróstegui, Esteban; Martín, Rosa; Antich, Jaume; Carballo, Miguel

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996
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Partial duplication (dup. TCAC (178)) and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

Gilbert‐Dussardier, Brigitte; Segues, Bertrand; Rozet, Jean‐Michel; Rabier, Daniel; Calvas, Patrick; de Lumley, Lionel; Bonnefond, Jean‐Paul; Munnich, Arnold

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996
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IDS gene‐pseudogene exchange responsible for an intragenic deletion in a hunter patient

Birot, Anne‐Marie; Bouton, Olivier; Froissart, Roseline; Maire, Irène; Bozon, Dominique

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996
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DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: Detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations

Eiken, Hans Geir; Knappskog, Per M.; Guldberg, Per; Apold, Jaran

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996
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Novel missense mutation of the connexin32 (GJB1) gene in X‐linked dominant charcot‐marie‐tooth neuropathy

Schiavon, Federica; Fracasso, Cinzia; Mostacciuolo, Maria L.

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996
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Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland

Humphries, Marian M.; Mansergh, Fiona C.; Kiang, Anna‐Sophie; Jordan, Siobhán A.; Sheils, Denise M.; Martin, Michael J.; Farrar, G. Jane; Kenna, Paul F.; Young, Marjorie M.; Humphries, Peter

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996
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Single base‐pair substitutions in pathology and evolution: Two sides to the same coin

Krawczak, Michael; Cooper, David N.

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Human Mutation Volume 8 Issue 1

Mutations and Polymorphisms in the familial early‐onset breast cancer ( BRCA1 ) gene

Couch, Fergus J.; Weber, Barbara L.

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Masthead

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Somatic stability of the expanded CAG trinucleotide repeat in X‐linked spinal and bulbar muscular atrophy

Spiegel, Roland; La Spada, Albert R.; Kress, Wolfram; Fischbeck, Kenneth H.; Schmid, Werner

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

New mutation in the 3′‐acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

Reig, Carlos; Alvarez, Ana‐Isabel; Tejada, Isabel; Molina, Manuel; Aróstegui, Esteban; Martín, Rosa; Antich, Jaume; Carballo, Miguel

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Partial duplication (dup. TCAC (178)) and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

Gilbert‐Dussardier, Brigitte; Segues, Bertrand; Rozet, Jean‐Michel; Rabier, Daniel; Calvas, Patrick; de Lumley, Lionel; Bonnefond, Jean‐Paul; Munnich, Arnold

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

IDS gene‐pseudogene exchange responsible for an intragenic deletion in a hunter patient

Birot, Anne‐Marie; Bouton, Olivier; Froissart, Roseline; Maire, Irène; Bozon, Dominique

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: Detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations

Eiken, Hans Geir; Knappskog, Per M.; Guldberg, Per; Apold, Jaran

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Novel missense mutation of the connexin32 (GJB1) gene in X‐linked dominant charcot‐marie‐tooth neuropathy

Schiavon, Federica; Fracasso, Cinzia; Mostacciuolo, Maria L.

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland

Humphries, Marian M.; Mansergh, Fiona C.; Kiang, Anna‐Sophie; Jordan, Siobhán A.; Sheils, Denise M.; Martin, Michael J.; Farrar, G. Jane; Kenna, Paul F.; Young, Marjorie M.; Humphries, Peter

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Single base‐pair substitutions in pathology and evolution: Two sides to the same coin

Krawczak, Michael; Cooper, David N.

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

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Human Mutation Volume 8 Issue 1

1 - 10 of 21 articles

Couch, Fergus J.; Weber, Barbara L.

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Spiegel, Roland; La Spada, Albert R.; Kress, Wolfram; Fischbeck, Kenneth H.; Schmid, Werner

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Reig, Carlos; Alvarez, Ana‐Isabel; Tejada, Isabel; Molina, Manuel; Aróstegui, Esteban; Martín, Rosa; Antich, Jaume; Carballo, Miguel

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Gilbert‐Dussardier, Brigitte; Segues, Bertrand; Rozet, Jean‐Michel; Rabier, Daniel; Calvas, Patrick; de Lumley, Lionel; Bonnefond, Jean‐Paul; Munnich, Arnold

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Birot, Anne‐Marie; Bouton, Olivier; Froissart, Roseline; Maire, Irène; Bozon, Dominique

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Eiken, Hans Geir; Knappskog, Per M.; Guldberg, Per; Apold, Jaran

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Schiavon, Federica; Fracasso, Cinzia; Mostacciuolo, Maria L.

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Humphries, Marian M.; Mansergh, Fiona C.; Kiang, Anna‐Sophie; Jordan, Siobhán A.; Sheils, Denise M.; Martin, Michael J.; Farrar, G. Jane; Kenna, Paul F.; Young, Marjorie M.; Humphries, Peter

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996

Krawczak, Michael; Cooper, David N.

Follow Human Mutation , Volume 8 (1) Wiley – Jan 1, 1996