Complete Maternal Isodisomy of Chromosome 3 in a Child with Recessive Dystrophic Epidermolysis Bullosa but No Other Phenotypic Abnormalities-Reference-Cited by-同舟云学术

Complete Maternal Isodisomy of Chromosome 3 in a Child with Recessive Dystrophic Epidermolysis Bullosa but No Other Phenotypic Abnormalities

Published:2006-09 Issue:9 Volume:126 Page:2039-2043
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Fassihi Hiva,Lu Liu,Wessagowit Vesarat,Ozoemena Linda C.,Jones Catherine A.,Dopping-Hepenstal Patricia J.C.,Foster Lesley,Atherton David J.,Mellerio Jemima E.,McGrath John A.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference29 articles.

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2. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa;Christiano;Genomics,1994

3. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa;Christiano;Hum Mutat,1997

4. Imprinted genes in the placenta – a review;Coan;Placenta,2005

5. A new genetic concept: uniparental disomy and its potential effect, isodisomy;Engel;Am J Med Genet,1980

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