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Human Mutation Volume 2 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 the haplotype associated with the APOB‐3500 mutation in a French hypercholesterolemic subject: Further support for a unique European ancestral mutation

Loux, N.; Saint‐Jore, B.; Collod, G.; Benlian, P.; Cambou, J. P.; Denat, M.; Junien, C.; Boileau, C.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993
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Fabry disease: Detection of gene rearrangements in the human α‐Galactosidase A Gene by Multiplex PCR Amplification

Kornreich, Ruth; Desnick, Robert J.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993
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Identification of a leucine‐to‐proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

Dong, Wei; Ryynänen, Markku; Uitto, Jouni

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993
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Hunter syndrome: Gene deletions and rearrangements

Froissart, Roseline; Blond, Jean‐Luc; Maire, Irene; Guibaud, Pierre; Hopwood, John J.; Mathieu, Monique; Bozon, Dominique

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993
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Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR‐amplifiable synthetic DNA

Wood, Nigel; Tyfield, Linda; Bidwell, Jeffrey

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993
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Screening for molecular pathologies in Lesch‐Nyhan syndrome

Boyd, Marie; Lanyon, W. George; Connor, J. Michael

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993
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Mutation in Scheie syndrome (MPS IS): A G→A transition creates new splice site in intron 5 of one IDUA allele

Moskowitz, Samuel M.; Tieu, Phuong T.; Neufeld, Elizabeth F.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993
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The spectrum of β‐thalassemia mutations in Azerbaijan

Tagiev, A. F.; Surin, V. L.; Gol'tsov, A. A.; Lukianenko, A. V.; Solovyev, G. Ya.; Gulieva, E. A.; Plutalov, O. V.; Kaboev, O. K.; Mamedova, T. A.; Dadasheva, T. S.; Rustamov, R. Sh.; Schwartz, E. I.; Berlin, Yu. A.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993
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A method to isolate DNA from small archival tissue samples for p53 gene analysis

Schubert, Elizabeth L.; Bischoff, Farideh Z.; Whitaker, Laura L.; Pleasants, Lisa M.; Hansen, Marc F.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993
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Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX

Green, P. M.; Mitchell, V. E.; McGraw, A.; Goldman, E.; Giannelli, F.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Human Mutation Volume 2 Issue 2

Identification of the haplotype associated with the APOB‐3500 mutation in a French hypercholesterolemic subject: Further support for a unique European ancestral mutation

Loux, N.; Saint‐Jore, B.; Collod, G.; Benlian, P.; Cambou, J. P.; Denat, M.; Junien, C.; Boileau, C.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Fabry disease: Detection of gene rearrangements in the human α‐Galactosidase A Gene by Multiplex PCR Amplification

Kornreich, Ruth; Desnick, Robert J.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Identification of a leucine‐to‐proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

Dong, Wei; Ryynänen, Markku; Uitto, Jouni

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Hunter syndrome: Gene deletions and rearrangements

Froissart, Roseline; Blond, Jean‐Luc; Maire, Irene; Guibaud, Pierre; Hopwood, John J.; Mathieu, Monique; Bozon, Dominique

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR‐amplifiable synthetic DNA

Wood, Nigel; Tyfield, Linda; Bidwell, Jeffrey

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Screening for molecular pathologies in Lesch‐Nyhan syndrome

Boyd, Marie; Lanyon, W. George; Connor, J. Michael

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Mutation in Scheie syndrome (MPS IS): A G→A transition creates new splice site in intron 5 of one IDUA allele

Moskowitz, Samuel M.; Tieu, Phuong T.; Neufeld, Elizabeth F.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

The spectrum of β‐thalassemia mutations in Azerbaijan

Tagiev, A. F.; Surin, V. L.; Gol'tsov, A. A.; Lukianenko, A. V.; Solovyev, G. Ya.; Gulieva, E. A.; Plutalov, O. V.; Kaboev, O. K.; Mamedova, T. A.; Dadasheva, T. S.; Rustamov, R. Sh.; Schwartz, E. I.; Berlin, Yu. A.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

A method to isolate DNA from small archival tissue samples for p53 gene analysis

Schubert, Elizabeth L.; Bischoff, Farideh Z.; Whitaker, Laura L.; Pleasants, Lisa M.; Hansen, Marc F.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX

Green, P. M.; Mitchell, V. E.; McGraw, A.; Goldman, E.; Giannelli, F.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

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Human Mutation Volume 2 Issue 2

1 - 10 of 19 articles

Loux, N.; Saint‐Jore, B.; Collod, G.; Benlian, P.; Cambou, J. P.; Denat, M.; Junien, C.; Boileau, C.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Kornreich, Ruth; Desnick, Robert J.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Dong, Wei; Ryynänen, Markku; Uitto, Jouni

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Froissart, Roseline; Blond, Jean‐Luc; Maire, Irene; Guibaud, Pierre; Hopwood, John J.; Mathieu, Monique; Bozon, Dominique

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Wood, Nigel; Tyfield, Linda; Bidwell, Jeffrey

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Boyd, Marie; Lanyon, W. George; Connor, J. Michael

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Moskowitz, Samuel M.; Tieu, Phuong T.; Neufeld, Elizabeth F.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Tagiev, A. F.; Surin, V. L.; Gol'tsov, A. A.; Lukianenko, A. V.; Solovyev, G. Ya.; Gulieva, E. A.; Plutalov, O. V.; Kaboev, O. K.; Mamedova, T. A.; Dadasheva, T. S.; Rustamov, R. Sh.; Schwartz, E. I.; Berlin, Yu. A.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Schubert, Elizabeth L.; Bischoff, Farideh Z.; Whitaker, Laura L.; Pleasants, Lisa M.; Hansen, Marc F.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993

Green, P. M.; Mitchell, V. E.; McGraw, A.; Goldman, E.; Giannelli, F.

Follow Human Mutation , Volume 2 (2) Wiley – Jan 1, 1993