Mutational and Haplotype Analyses of Families with Familial Partial Lipodystrophy (Dunnigan Variety) Reveal Recurrent Missense Mutations in the Globular C-Terminal Domain of Lamin A/C-Reference-Cited by-同舟云学术

Mutational and Haplotype Analyses of Families with Familial Partial Lipodystrophy (Dunnigan Variety) Reveal Recurrent Missense Mutations in the Globular C-Terminal Domain of Lamin A/C

Published:2000-04 Issue:4 Volume:66 Page:1192-1198
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Speckman Rebecca A.,Garg Abhimanyu,Du Fenghe,Bennett Lynda,Veile Rose,Arioglu Elif,Taylor Simeon I.,Lovett Michael,Bowcock Anne M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference26 articles.

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3. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy;Bonne;Nat Genet,1999

4. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy;Cao;Hum Mol Genet,2000

5. Distribution of 5-methylcytosine in pyrimidine sequences of deoxyribonucleic acids;Doskocil;Biochim Biophys Acta,1962

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