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Human Mutation Volume 3 Issue 1

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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Reverse dot blot probes for the screening of β‐thalassernia mutationsin Asians and American blacks

Cai, Shi‐Ping; Wall, Jeff; Kan, Yuet Wai; Chehab, Farid F.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994
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Masthead

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994
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Linkage disequilibrium across the fibrinogen locus as shown by five genetic polymorphisms, G/A −455 ( Hae III), C/T −148 ( Hind III/ Alu I), T/G +1689 ( Ava II), and Bcl I (β‐fibrinogen) and Taq I (α‐fibrinogen), and their detection by PCR

Thomas, Angela; Lamlum, Hanan; Humphries, Steve; Green, Fiona

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994
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Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma

Kato, Mitsuo V.; Ishizaki, Kanji; Toguchida, Junya; Kaneko, Akihiro; Takayama, Jun; Tanooka, Hiroshi; Kato, Tomohisa; Shimizu, Takashi; Sasaki, Masao S.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994
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Enzymatic amplification of synthetic oligodeoxyribonucleotides: Implications for triplet repeat expansions in the human genome

Behn‐Krappa, Annett; Doerfler, Walter

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994
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Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families

Koorey, David J.; McCaughan, Geoffrey W.; Trent, Ronald J.; Gallagher, Neil D.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994
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C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome

Villa, A.; Strina, D.; Macchi, P.; Patrosso, M. C.; Vezzoni, P.; Tovo, P. A.; Giliani, S.; Ugazio, A. G.; Notarangelo, L. D.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994
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Time‐resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy

Huoponen, Kirsi; Juvonen, Vesa; Iitiä, Antti; Dahlen, Patrik; Siitari, Harri; Aula, Pertti; Nikoskelainen, Eeva; Savontaus, Marja‐Liisa

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994
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DNA mutational analysis of type 1 and type 3 gaucher patients: How well do mutations predict phenotype?

Sidransky, Ellen; Bottler, Anja; Stubblefield, Barbara; Ginns, Edward I.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994
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Mutations causing gaucher disease

Horowitz, Mia; Zimran, Ari

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Human Mutation Volume 3 Issue 1

Reverse dot blot probes for the screening of β‐thalassernia mutationsin Asians and American blacks

Cai, Shi‐Ping; Wall, Jeff; Kan, Yuet Wai; Chehab, Farid F.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Masthead

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Linkage disequilibrium across the fibrinogen locus as shown by five genetic polymorphisms, G/A −455 ( Hae III), C/T −148 ( Hind III/ Alu I), T/G +1689 ( Ava II), and Bcl I (β‐fibrinogen) and Taq I (α‐fibrinogen), and their detection by PCR

Thomas, Angela; Lamlum, Hanan; Humphries, Steve; Green, Fiona

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma

Kato, Mitsuo V.; Ishizaki, Kanji; Toguchida, Junya; Kaneko, Akihiro; Takayama, Jun; Tanooka, Hiroshi; Kato, Tomohisa; Shimizu, Takashi; Sasaki, Masao S.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Enzymatic amplification of synthetic oligodeoxyribonucleotides: Implications for triplet repeat expansions in the human genome

Behn‐Krappa, Annett; Doerfler, Walter

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families

Koorey, David J.; McCaughan, Geoffrey W.; Trent, Ronald J.; Gallagher, Neil D.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome

Villa, A.; Strina, D.; Macchi, P.; Patrosso, M. C.; Vezzoni, P.; Tovo, P. A.; Giliani, S.; Ugazio, A. G.; Notarangelo, L. D.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Time‐resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy

Huoponen, Kirsi; Juvonen, Vesa; Iitiä, Antti; Dahlen, Patrik; Siitari, Harri; Aula, Pertti; Nikoskelainen, Eeva; Savontaus, Marja‐Liisa

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

DNA mutational analysis of type 1 and type 3 gaucher patients: How well do mutations predict phenotype?

Sidransky, Ellen; Bottler, Anja; Stubblefield, Barbara; Ginns, Edward I.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Mutations causing gaucher disease

Horowitz, Mia; Zimran, Ari

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

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Human Mutation Volume 3 Issue 1

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Cai, Shi‐Ping; Wall, Jeff; Kan, Yuet Wai; Chehab, Farid F.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Thomas, Angela; Lamlum, Hanan; Humphries, Steve; Green, Fiona

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Kato, Mitsuo V.; Ishizaki, Kanji; Toguchida, Junya; Kaneko, Akihiro; Takayama, Jun; Tanooka, Hiroshi; Kato, Tomohisa; Shimizu, Takashi; Sasaki, Masao S.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Behn‐Krappa, Annett; Doerfler, Walter

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Koorey, David J.; McCaughan, Geoffrey W.; Trent, Ronald J.; Gallagher, Neil D.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Villa, A.; Strina, D.; Macchi, P.; Patrosso, M. C.; Vezzoni, P.; Tovo, P. A.; Giliani, S.; Ugazio, A. G.; Notarangelo, L. D.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Huoponen, Kirsi; Juvonen, Vesa; Iitiä, Antti; Dahlen, Patrik; Siitari, Harri; Aula, Pertti; Nikoskelainen, Eeva; Savontaus, Marja‐Liisa

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Sidransky, Ellen; Bottler, Anja; Stubblefield, Barbara; Ginns, Edward I.

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994

Horowitz, Mia; Zimran, Ari

Follow Human Mutation , Volume 3 (1) Wiley – Jan 1, 1994