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Human Mutation Volume 18 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
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1995
- Volume 6
- Volume 5
1994
- Volume 4
- Volume 3
1993
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1992
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Eleven novel JAK3 mutations in patients with severe combined immunodeficiency—including the first patients with mutations in the kinase domain

Mella, Patrizia; Schumacher, Richard Fabian; Cranston, Treena; de Saint Basile, Genevieve; Savoldi, Gianfranco; Notarangelo, Luigi D.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001
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Analysis of a non‐functional HNF‐1ॅ (TCF1) mutation in Japanese subjects with familial type 1 diabetes

Yoshiuchi, Issei; Yamagata, Kazuya; Yoshimoto, Masaaki; Zhu, Qian; Yang, Qin; Nammo, Takao; Uenaka, Rikako; Kinoshita, Ei‐ichi; Hanafusa, Toshiaki; Miyagawa, Jun‐ichiro; Matsuzawa, Yuji

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001
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Low density lipoprotein receptor ( LDLR ) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent

Wang, Jian; Huff, Erin; Janecka, Lenny; Hegele, Robert A.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001
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Bruton tyrosine kinase gene mutations in Turkish patients with presumed X‐linked agammaglobulinemia

Wang, Yue; Kanegane, Hirokazu; Sanal, Ozden; Ersoy, Fügen; Tezcan, Ilhan; Futatani, Takeshi; Tsukada, Satoshi; Miyawaki, Toshio

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001
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Deletions and duplications of Gly‐Xaa‐Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta

Pace, James M.; Atkinson, Mary; Willing, Marcia C.; Wallis, Gillian; Byers, Peter H.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001
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Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency

Notarangelo, Luigi D.; Mella, Patrizia; Jones, Alison; de Saint Basile, Genevieve; Savoldi, Gianfranco; Cranston, Treena; Vihinen, Mauno; Schumacher, Richard Fabian

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001
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10th International HUGO Mutation Database Initiative Meeting, 19 April 2001, Edinburgh, Scotland

Teebi, Saeed A.; Cuticchia, A. Jamie; Cotton, Richard G.H.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001
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Oncogenic levels of mitogen‐activated protein kinase (MAPK) signaling of the dinucleotide KRAS2 mutations G12F and GG12‐13VC

Feldser, David M.; Kern, Scott E.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001
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Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N‐acetylgalactosamine‐4‐sulfatase

Litjens, Tom; Hopwood, John J.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001
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Mutations in ATP‐cassette binding proteins G5 ( ABCG5 ) and G8 ( ABCG8 ) causing sitosterolemia

Hubacek, Jaroslav A.; Berge, Knut E.; Cohen, Jonathan C.; Hobbs, Helen H.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Human Mutation Volume 18 Issue 4

Eleven novel JAK3 mutations in patients with severe combined immunodeficiency—including the first patients with mutations in the kinase domain

Mella, Patrizia; Schumacher, Richard Fabian; Cranston, Treena; de Saint Basile, Genevieve; Savoldi, Gianfranco; Notarangelo, Luigi D.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Analysis of a non‐functional HNF‐1ॅ (TCF1) mutation in Japanese subjects with familial type 1 diabetes

Yoshiuchi, Issei; Yamagata, Kazuya; Yoshimoto, Masaaki; Zhu, Qian; Yang, Qin; Nammo, Takao; Uenaka, Rikako; Kinoshita, Ei‐ichi; Hanafusa, Toshiaki; Miyagawa, Jun‐ichiro; Matsuzawa, Yuji

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Low density lipoprotein receptor ( LDLR ) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent

Wang, Jian; Huff, Erin; Janecka, Lenny; Hegele, Robert A.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Bruton tyrosine kinase gene mutations in Turkish patients with presumed X‐linked agammaglobulinemia

Wang, Yue; Kanegane, Hirokazu; Sanal, Ozden; Ersoy, Fügen; Tezcan, Ilhan; Futatani, Takeshi; Tsukada, Satoshi; Miyawaki, Toshio

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Deletions and duplications of Gly‐Xaa‐Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta

Pace, James M.; Atkinson, Mary; Willing, Marcia C.; Wallis, Gillian; Byers, Peter H.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency

Notarangelo, Luigi D.; Mella, Patrizia; Jones, Alison; de Saint Basile, Genevieve; Savoldi, Gianfranco; Cranston, Treena; Vihinen, Mauno; Schumacher, Richard Fabian

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

10th International HUGO Mutation Database Initiative Meeting, 19 April 2001, Edinburgh, Scotland

Teebi, Saeed A.; Cuticchia, A. Jamie; Cotton, Richard G.H.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Oncogenic levels of mitogen‐activated protein kinase (MAPK) signaling of the dinucleotide KRAS2 mutations G12F and GG12‐13VC

Feldser, David M.; Kern, Scott E.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N‐acetylgalactosamine‐4‐sulfatase

Litjens, Tom; Hopwood, John J.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Mutations in ATP‐cassette binding proteins G5 ( ABCG5 ) and G8 ( ABCG8 ) causing sitosterolemia

Hubacek, Jaroslav A.; Berge, Knut E.; Cohen, Jonathan C.; Hobbs, Helen H.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

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Human Mutation Volume 18 Issue 4

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Mella, Patrizia; Schumacher, Richard Fabian; Cranston, Treena; de Saint Basile, Genevieve; Savoldi, Gianfranco; Notarangelo, Luigi D.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Yoshiuchi, Issei; Yamagata, Kazuya; Yoshimoto, Masaaki; Zhu, Qian; Yang, Qin; Nammo, Takao; Uenaka, Rikako; Kinoshita, Ei‐ichi; Hanafusa, Toshiaki; Miyagawa, Jun‐ichiro; Matsuzawa, Yuji

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Wang, Jian; Huff, Erin; Janecka, Lenny; Hegele, Robert A.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Wang, Yue; Kanegane, Hirokazu; Sanal, Ozden; Ersoy, Fügen; Tezcan, Ilhan; Futatani, Takeshi; Tsukada, Satoshi; Miyawaki, Toshio

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Pace, James M.; Atkinson, Mary; Willing, Marcia C.; Wallis, Gillian; Byers, Peter H.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Notarangelo, Luigi D.; Mella, Patrizia; Jones, Alison; de Saint Basile, Genevieve; Savoldi, Gianfranco; Cranston, Treena; Vihinen, Mauno; Schumacher, Richard Fabian

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Teebi, Saeed A.; Cuticchia, A. Jamie; Cotton, Richard G.H.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Feldser, David M.; Kern, Scott E.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Litjens, Tom; Hopwood, John J.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001

Hubacek, Jaroslav A.; Berge, Knut E.; Cohen, Jonathan C.; Hobbs, Helen H.

Follow Human Mutation , Volume 18 (4) Wiley – Oct 1, 2001