Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV-Reference-Cited by-同舟云学术

Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV

Published:1993-05-15 Issue:3 Volume:46 Page:278-283
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Narcisi Paolo,Wu Yuli,Tromp Gerard,Earley James J,Richards Allan J.,Pope F. Michael,Kuivaniemi Helena

Publisher

Wiley

Subject

Genetics(clinical)

Reference39 articles.

1. Structure of cDNA clones coding for the entire preproα1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences

2. (1970): The Ehlers-Danlos Syndrome. London: William Heinemann.

3. Proteolytic enzymes as probes for the triple-helical conformation of procollagen

4. (1983) Inherited disorders of collagen biosynthesis: Ehlers Danlos syndrome, the Marfan syndrome, and osteogenesis imperfecta. In (ed): “Clinical Medicine.” Philadelphia: Harper & Row, pp. 1-41.

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