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Human Mutation Volume 22 Issue 6

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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Fabry disease: Characterization of α‐galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

Yasuda, Makiko; Shabbeer, Junaid; Benson, Stacy D.; Maire, Irene; Burnett, Roger M.; Desnick, Robert J.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003
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Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2

Cregeen, David P.; Williams, Emma L.; Hulton, Sally; Rumsby, Gill

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003
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DHPLC analysis of potassium ion channel genes in congenital long QT syndrome

Jongbloed, Roselie; Marcelis, Carlo; Velter, Crool; Doevendans, Pieter; Geraedts, Joep; Smeets, Hubert

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003
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CYP2D6 genotyping strategy based on gene copy number determination by TaqMan real‐rime PCR

Schaeffeler, Elke; Schwab, Matthias; Eichelbaum, Michel; Zanger, Ulrich M.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003
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Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema

Kalmár, Lajos; Bors, András; Farkas, Henriette; Vas, Szilvia; Fandl, Barbara; Varga, Lilian; Füst, György; Tordai, Attila

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003
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Mutational spectrum of the succinate semialdehyde dehydrogenase ( ALDH5A1 ) gene and functional analysis of 27 novel disease‐causing mutations in patients with SSADH deficiency

Akaboshi, Shinjiro; Hogema, Boris M.; Novelletto, Andrea; Malaspina, Patrizia; Salomons, Gajja S.; Maropoulos, George D.; Jakobs, Cornelis; Grompe, Markus; Gibson, K. Michael

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003
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POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

Fonzo, Alessio Di; Bordoni, Andreina; Crimi, Marco; Sara, Galbiati; Bo, Roberto Del; Bresolin, Nereo; Comi, Giacomo P.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003
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Erratum: mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations

Saroj Kiran, Velamakanni; Kannabiran, Chitra; Chakravarthi, Kalyana; Vemuganti, Geeta K.; Honavar, Santosh G.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003
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Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene

Njålsson, Runa; Carlsson, Katarina; Winkler, Andreas; Larsson, Agne; Norgren, Svante

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003
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Cystathionine ॆ ‐synthase deficiency in Georgia (USA): Correlation of clinical and biochemical phenotype with genotype

Kruger, W.D.; Wang, L.; Jhee, K.H.; Singh, R.H.; Elsas, L.J.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Human Mutation Volume 22 Issue 6

Fabry disease: Characterization of α‐galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

Yasuda, Makiko; Shabbeer, Junaid; Benson, Stacy D.; Maire, Irene; Burnett, Roger M.; Desnick, Robert J.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2

Cregeen, David P.; Williams, Emma L.; Hulton, Sally; Rumsby, Gill

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome

Jongbloed, Roselie; Marcelis, Carlo; Velter, Crool; Doevendans, Pieter; Geraedts, Joep; Smeets, Hubert

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

CYP2D6 genotyping strategy based on gene copy number determination by TaqMan real‐rime PCR

Schaeffeler, Elke; Schwab, Matthias; Eichelbaum, Michel; Zanger, Ulrich M.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema

Kalmár, Lajos; Bors, András; Farkas, Henriette; Vas, Szilvia; Fandl, Barbara; Varga, Lilian; Füst, György; Tordai, Attila

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Mutational spectrum of the succinate semialdehyde dehydrogenase ( ALDH5A1 ) gene and functional analysis of 27 novel disease‐causing mutations in patients with SSADH deficiency

Akaboshi, Shinjiro; Hogema, Boris M.; Novelletto, Andrea; Malaspina, Patrizia; Salomons, Gajja S.; Maropoulos, George D.; Jakobs, Cornelis; Grompe, Markus; Gibson, K. Michael

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

Fonzo, Alessio Di; Bordoni, Andreina; Crimi, Marco; Sara, Galbiati; Bo, Roberto Del; Bresolin, Nereo; Comi, Giacomo P.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Erratum: mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations

Saroj Kiran, Velamakanni; Kannabiran, Chitra; Chakravarthi, Kalyana; Vemuganti, Geeta K.; Honavar, Santosh G.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene

Njålsson, Runa; Carlsson, Katarina; Winkler, Andreas; Larsson, Agne; Norgren, Svante

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Cystathionine ॆ ‐synthase deficiency in Georgia (USA): Correlation of clinical and biochemical phenotype with genotype

Kruger, W.D.; Wang, L.; Jhee, K.H.; Singh, R.H.; Elsas, L.J.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

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Human Mutation Volume 22 Issue 6

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Yasuda, Makiko; Shabbeer, Junaid; Benson, Stacy D.; Maire, Irene; Burnett, Roger M.; Desnick, Robert J.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Cregeen, David P.; Williams, Emma L.; Hulton, Sally; Rumsby, Gill

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Jongbloed, Roselie; Marcelis, Carlo; Velter, Crool; Doevendans, Pieter; Geraedts, Joep; Smeets, Hubert

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Schaeffeler, Elke; Schwab, Matthias; Eichelbaum, Michel; Zanger, Ulrich M.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Kalmár, Lajos; Bors, András; Farkas, Henriette; Vas, Szilvia; Fandl, Barbara; Varga, Lilian; Füst, György; Tordai, Attila

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Akaboshi, Shinjiro; Hogema, Boris M.; Novelletto, Andrea; Malaspina, Patrizia; Salomons, Gajja S.; Maropoulos, George D.; Jakobs, Cornelis; Grompe, Markus; Gibson, K. Michael

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Fonzo, Alessio Di; Bordoni, Andreina; Crimi, Marco; Sara, Galbiati; Bo, Roberto Del; Bresolin, Nereo; Comi, Giacomo P.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Saroj Kiran, Velamakanni; Kannabiran, Chitra; Chakravarthi, Kalyana; Vemuganti, Geeta K.; Honavar, Santosh G.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Njålsson, Runa; Carlsson, Katarina; Winkler, Andreas; Larsson, Agne; Norgren, Svante

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003

Kruger, W.D.; Wang, L.; Jhee, K.H.; Singh, R.H.; Elsas, L.J.

Follow Human Mutation , Volume 22 (6) Wiley – Dec 1, 2003