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Human Mutation Volume 10 Issue 2

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 a new mutation of the myosin VII head region in Usher syndrome type 1

Liu, Xue‐zhong; Newton, Valerie E.; Steel, Karen P.; Brown, Steve D. M.

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997
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Cys 618 Arg mutation in the RET proto‐oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting

Peretz, Hava; Luboshitsky, Rafael; Baron, Ela; Biton, Amnon; Gershoni, Ruth; Usher, Saly; Grynberg, Elisheva; Yakobson, Emanuel; Graff, Eran; Lapidot, Mordechai

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997
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Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

Spritz, Richard A.; Lee, Seung‐Taek; Fukai, Kazuyoshi; Brondum‐Nielsen, Karen; Chitayat, David; Lipson, Mark H.; Musarella, Maria A.; Rosenmann, Ada; Weleber, Richard G.

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997
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Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations

Estivill, Xavier; Bancells, Consol; Ramos, Cristina

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997
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Glycogenosis type II: A juvenile‐specific mutation with an unusual splicing pattern and a shared mutation in African Americans

Adams, Elizabeth M.; Becker, Jeffrey A.; Griffith, Linda; Segal, Ava; Plotz, Paul H.; Raben, Nina

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997
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Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease

Friedman, Kenneth J.; Heim, Ruth A.; Knowles, Michael R.; Silverman, Lawrence M.

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997
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Diversity of ATM gene mutations detected in patients with ataxia‐telangiectasia

Concannon, Patrick; Gatti, Richard A.

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997
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Molecular basis of HNPCC: Mutations of MMR genes

Papadopoulos, Nickolas; Lindblom, Annika

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997
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Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia

Day, INM; Whittall, RA; O'Dell, SD; Haddad, L; Bolla, MK; Gudnason, V; Humphries, SE

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997
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Familial ligand‐defective apolipoprotein B‐100: Simultaneous detection of the ARG 3500 →GLN and ARG 3531 →CYS mutations in a French population

Rabès, JP; Varret, M; Saint‐Jore, B; Erlich, D; Jondeau, G; Krempf, M; Giraudet, P; Junien, C; Boileau, C

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Human Mutation Volume 10 Issue 2

Identification of a new mutation of the myosin VII head region in Usher syndrome type 1

Liu, Xue‐zhong; Newton, Valerie E.; Steel, Karen P.; Brown, Steve D. M.

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Cys 618 Arg mutation in the RET proto‐oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting

Peretz, Hava; Luboshitsky, Rafael; Baron, Ela; Biton, Amnon; Gershoni, Ruth; Usher, Saly; Grynberg, Elisheva; Yakobson, Emanuel; Graff, Eran; Lapidot, Mordechai

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

Spritz, Richard A.; Lee, Seung‐Taek; Fukai, Kazuyoshi; Brondum‐Nielsen, Karen; Chitayat, David; Lipson, Mark H.; Musarella, Maria A.; Rosenmann, Ada; Weleber, Richard G.

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations

Estivill, Xavier; Bancells, Consol; Ramos, Cristina

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Glycogenosis type II: A juvenile‐specific mutation with an unusual splicing pattern and a shared mutation in African Americans

Adams, Elizabeth M.; Becker, Jeffrey A.; Griffith, Linda; Segal, Ava; Plotz, Paul H.; Raben, Nina

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease

Friedman, Kenneth J.; Heim, Ruth A.; Knowles, Michael R.; Silverman, Lawrence M.

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Diversity of ATM gene mutations detected in patients with ataxia‐telangiectasia

Concannon, Patrick; Gatti, Richard A.

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Molecular basis of HNPCC: Mutations of MMR genes

Papadopoulos, Nickolas; Lindblom, Annika

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia

Day, INM; Whittall, RA; O'Dell, SD; Haddad, L; Bolla, MK; Gudnason, V; Humphries, SE

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Familial ligand‐defective apolipoprotein B‐100: Simultaneous detection of the ARG 3500 →GLN and ARG 3531 →CYS mutations in a French population

Rabès, JP; Varret, M; Saint‐Jore, B; Erlich, D; Jondeau, G; Krempf, M; Giraudet, P; Junien, C; Boileau, C

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

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Human Mutation Volume 10 Issue 2

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Liu, Xue‐zhong; Newton, Valerie E.; Steel, Karen P.; Brown, Steve D. M.

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Peretz, Hava; Luboshitsky, Rafael; Baron, Ela; Biton, Amnon; Gershoni, Ruth; Usher, Saly; Grynberg, Elisheva; Yakobson, Emanuel; Graff, Eran; Lapidot, Mordechai

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Spritz, Richard A.; Lee, Seung‐Taek; Fukai, Kazuyoshi; Brondum‐Nielsen, Karen; Chitayat, David; Lipson, Mark H.; Musarella, Maria A.; Rosenmann, Ada; Weleber, Richard G.

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Estivill, Xavier; Bancells, Consol; Ramos, Cristina

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Adams, Elizabeth M.; Becker, Jeffrey A.; Griffith, Linda; Segal, Ava; Plotz, Paul H.; Raben, Nina

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Friedman, Kenneth J.; Heim, Ruth A.; Knowles, Michael R.; Silverman, Lawrence M.

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Concannon, Patrick; Gatti, Richard A.

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Papadopoulos, Nickolas; Lindblom, Annika

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Day, INM; Whittall, RA; O'Dell, SD; Haddad, L; Bolla, MK; Gudnason, V; Humphries, SE

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997

Rabès, JP; Varret, M; Saint‐Jore, B; Erlich, D; Jondeau, G; Krempf, M; Giraudet, P; Junien, C; Boileau, C

Follow Human Mutation , Volume 10 (2) Wiley – Jan 1, 1997