Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen-Reference-Cited by-同舟云学术

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

Published:1997-10-03 Issue:1 Volume:72 Page:94-105
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Byers Peter H.,Duvic Madeleine,Atkinson Mary,Robinow Meinhard,Smith Lynne T.,Krane Stephen M.,Greally Marie T.,Ludman Mark,Matalon Reuben,Pauker Susan,Quanbeck Deborah,Schwarze Ulrike

Publisher

Wiley

Subject

Genetics (clinical)

Reference43 articles.

1. Assessment of procollagen processing defects by fibroblasts cultured in the presence of dextran sulphate

2. : (1970): “The Ehlers-Danlos Syndrome”. London: William Heinemann Books, Ltd.

3. : (1993): The Ehlers-Danlos syndrome. In (ed): “McKusick's Heritable Disorders of Connective Tissue”, 5th ed. St. Louis: Mosby, pp 189–254.

4. Exon Recognition in Vertebrate Splicing

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