COL5A1 Exon 14 Splice Acceptor Mutation Causes a Functional Null Allele, Haploinsufficiency of α1(V) and Abnormal Heterotypic Interstitial Fibrils in Ehlers-Danlos Syndrome II-Reference-Cited by-同舟云学术

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COL5A1 Exon 14 Splice Acceptor Mutation Causes a Functional Null Allele, Haploinsufficiency of α1(V) and Abnormal Heterotypic Interstitial Fibrils in Ehlers-Danlos Syndrome II

Published:2001-04 Issue:16 Volume:276 Page:13356-13364
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Bouma Peter,Cabral Wayne A.,Cole William G.,Marini Joan C.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference38 articles.

1. McKusick's Heritable Disorders of Connective Tissue;Beighton;Mosby, Inc.,1992

2. Connective Tissue and Its Heritable Disorders;Steinmann;Wiley-Liss, Inc.,1993

3. Am. J. Hum. Genet.;Burridge,1999

4. J. Biol. Chem.;Fessler,1985

5. Proc. Natl. Acad. Sci. U. S. A.;Burgeson,1976

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1. COL5A1 overexpression correlates with poor prognosis in human cervical cancer;The International Journal of Biological Markers;2024-07-23

2. Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome;Genes;2022-04-29

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