Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene-Reference-Cited by-同舟云学术

Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Published:1999-08 Issue:2 Volume:65 Page:308-317
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Colige Alain,Sieron Aleksander L.,Li Shi-Wu,Schwarze Ulrike,Petty Elizabeth,Wertelecki Wladimir,Wilcox William,Krakow Deborah,Cohn Daniel H.,Reardon W.,Byers Peter H.,Lapière Charles M.,Prockop Darwin J.,Nusgens Betty V.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. β-Globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability;Baserga;Proc Natl Acad Sci USA,1992

2. Diagnosing Ehlers-Danlos syndrome: revised nosology, Villefranche, 1997;Beighton;Am J Med Genet,1998

3. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome;Burch;Nat Genet,1997

4. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease;Chirgwin;Biochemistry,1979

5. Characterization and partial amino acid sequencing of a 107-kDa procollagen I N-proteinase purified by affinity chromatography on immobilized type XIV collagen;Colige;J Biol Chem,1995

Cited by 330 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. ADAMTS2 promotes radial migration by activating TGF-β signaling in the developing neocortex;EMBO Reports;2024-06-13

2. The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease;International Journal of Molecular Sciences;2024-05-25

3. Secreted ADAMTS-like proteins as regulators of connective tissue function;American Journal of Physiology-Cell Physiology;2024-03-01

4. Genetic Disorders of Collagen, Elastin and Dermal Matrix;Rook's Textbook of Dermatology;2024-02-20

5. Introduction;Biochemistry of Collagens, Laminins and Elastin;2024