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Human Mutation Volume 19 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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Characterization of mutations in fifty North American patients with X‐linked myotubular myopathy

Herman, Gail E.; Kopacz, Kevin; Zhao, Wei; Mills, Patti L.; Metzenberg, Aida; Das, Soma

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002
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Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan

Dakeishi, Miwako; Shioya, Takanobu; Wada, Yasuhiko; Shindo, Tsutomu; Otaka, Kousei; Manabe, Motomu; Nozaki, Jun‐Ichi; Inoue, Sumiko; Koizumi, Akio

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002
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250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile–adult DM1

Savić, Dušanka; Rakočvić‐Stojanović, Vidosava; Keckarević, Dušan; Čuljković, Biljana; Stojković, Oliver; Mladenović, Jelena; Todorović, Slobodanka; Apostolski, Slobodan; Romac, Stanka

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002
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Glucose‐6‐phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population

Nuchprayoon, I.; Sanpavat, S.; Nuchprayoon, S.

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002
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Mutations and polymorphisms in the human ornithine transcarbamylase gene

Tuchman, Mendel; Jaleel, Naser; Morizono, Hiroki; Sheehy, Lisa; Lynch, Michael G.

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002
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Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene

Okubo, Minoru; Horinishi, Asako; Kim, Dong‐Ho; Yamamoto, Tokuo T.; Murase, Toshio

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002
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A non‐radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations

Kahmann, Sabine; Herter, Peter; Kuhnen, Cornelius; Müller, Klaus‐Michael; Muhr, Gert; Martin, Dirk; Soddemann, Matthias; Müller, Oliver

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002
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The enigma of the San Lesmes (response to Langdon, 2002)

Chambers, Geoffrey K.; Passarino, Giuseppe; Underhill, Peter A.

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002
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Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

Yamaguchi, Naoki; Kobayashi, Keiko; Yasuda, Tomotsugu; Nishi, Ikumi; Iijima, Mikio; Nakagawa, Masanori; Osame, Mitsuhiro; Kondo, Ikuko; Saheki, Takeyori

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002
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New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene

Oetting, William S.

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Human Mutation Volume 19 Issue 2

Characterization of mutations in fifty North American patients with X‐linked myotubular myopathy

Herman, Gail E.; Kopacz, Kevin; Zhao, Wei; Mills, Patti L.; Metzenberg, Aida; Das, Soma

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan

Dakeishi, Miwako; Shioya, Takanobu; Wada, Yasuhiko; Shindo, Tsutomu; Otaka, Kousei; Manabe, Motomu; Nozaki, Jun‐Ichi; Inoue, Sumiko; Koizumi, Akio

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile–adult DM1

Savić, Dušanka; Rakočvić‐Stojanović, Vidosava; Keckarević, Dušan; Čuljković, Biljana; Stojković, Oliver; Mladenović, Jelena; Todorović, Slobodanka; Apostolski, Slobodan; Romac, Stanka

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Glucose‐6‐phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population

Nuchprayoon, I.; Sanpavat, S.; Nuchprayoon, S.

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Mutations and polymorphisms in the human ornithine transcarbamylase gene

Tuchman, Mendel; Jaleel, Naser; Morizono, Hiroki; Sheehy, Lisa; Lynch, Michael G.

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene

Okubo, Minoru; Horinishi, Asako; Kim, Dong‐Ho; Yamamoto, Tokuo T.; Murase, Toshio

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

A non‐radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations

Kahmann, Sabine; Herter, Peter; Kuhnen, Cornelius; Müller, Klaus‐Michael; Muhr, Gert; Martin, Dirk; Soddemann, Matthias; Müller, Oliver

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

The enigma of the San Lesmes (response to Langdon, 2002)

Chambers, Geoffrey K.; Passarino, Giuseppe; Underhill, Peter A.

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

Yamaguchi, Naoki; Kobayashi, Keiko; Yasuda, Tomotsugu; Nishi, Ikumi; Iijima, Mikio; Nakagawa, Masanori; Osame, Mitsuhiro; Kondo, Ikuko; Saheki, Takeyori

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene

Oetting, William S.

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

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Human Mutation Volume 19 Issue 2

1 - 10 of 19 articles

Herman, Gail E.; Kopacz, Kevin; Zhao, Wei; Mills, Patti L.; Metzenberg, Aida; Das, Soma

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Dakeishi, Miwako; Shioya, Takanobu; Wada, Yasuhiko; Shindo, Tsutomu; Otaka, Kousei; Manabe, Motomu; Nozaki, Jun‐Ichi; Inoue, Sumiko; Koizumi, Akio

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Savić, Dušanka; Rakočvić‐Stojanović, Vidosava; Keckarević, Dušan; Čuljković, Biljana; Stojković, Oliver; Mladenović, Jelena; Todorović, Slobodanka; Apostolski, Slobodan; Romac, Stanka

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Nuchprayoon, I.; Sanpavat, S.; Nuchprayoon, S.

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Tuchman, Mendel; Jaleel, Naser; Morizono, Hiroki; Sheehy, Lisa; Lynch, Michael G.

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Okubo, Minoru; Horinishi, Asako; Kim, Dong‐Ho; Yamamoto, Tokuo T.; Murase, Toshio

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Kahmann, Sabine; Herter, Peter; Kuhnen, Cornelius; Müller, Klaus‐Michael; Muhr, Gert; Martin, Dirk; Soddemann, Matthias; Müller, Oliver

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Chambers, Geoffrey K.; Passarino, Giuseppe; Underhill, Peter A.

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Yamaguchi, Naoki; Kobayashi, Keiko; Yasuda, Tomotsugu; Nishi, Ikumi; Iijima, Mikio; Nakagawa, Masanori; Osame, Mitsuhiro; Kondo, Ikuko; Saheki, Takeyori

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002

Follow Human Mutation , Volume 19 (2) Wiley – Feb 1, 2002