Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II)
- 1 June 2000
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 66 (6), 1757-1765
- https://doi.org/10.1086/302933
Abstract
No abstract availableKeywords
This publication has 46 references indexed in Scilit:
- A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.Journal of Medical Genetics, 1998
- Genetic linkage to the collagen α1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypesClinical and Experimental Dermatology, 1997
- An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.Journal of Medical Genetics, 1996
- A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of ItoNature Genetics, 1996
- Complete Structural Organization of the Human α1(V) Collagen Gene (COL5A1): Divergence from the Conserved Organization of Other Characterized Fibrillar Collagen GenesGenomics, 1995
- BstUI and Dpnll RFLPs at the COL5A1 geneHuman Molecular Genetics, 1994
- Pro-α2(V) Collagen Gene; Pairwise Analysis of the Amino-Propeptide Coding Domain, and Cross-Species Comparison of the Promoter SequenceConnective Tissue Research, 1993
- SEGREGATION ANALYSIS OF THE STRUCTURAL GENES OF THE MAJOR FIBRILLAR COLLAGENS PROVIDES FURTHER EVIDENCE OF MOLECULAR HETEROGENEITY IN TYPE II EHLERS—DANLOS SYNDROMERheumatology, 1991
- Existence of malfunctioning proα2(I) collagen genes in a patient with a proα2(I)‐chain‐defective variant of Ehlers‐Danlos syndromeEuropean Journal of Biochemistry, 1988
- Physical properties of the skin in the Ehlers-Danlos syndrome.Annals Of The Rheumatic Diseases, 1969