Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C-Reference-Cited by-同舟云学术

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

Published:2008 Issue:12 Volume:146A Page:1530-1542
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Rankin Julia,Auer-Grumbach Michaela,Bagg Warwick,Colclough Kevin,Duong Nguyen Thuy,Fenton-May Jane,Hattersley Andrew,Hudson Judith,Jardine Philip,Josifova Dragana,Longman Cheryl,McWilliam Robert,Owen Katharine,Walker Mark,Wehnert Manfred,Ellard Sian

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference33 articles.

1. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

2. Focal Segmental Glomerulosclerosis in Patients with Mandibuloacral Dysplasia Owing to ZMPSTE24 Deficiency

3. Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy

4. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

5. Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

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