A single base mutation in type I procollagen (COLIAI) that converts glycine α1-541 to aspartate in a lethal variant of osteogenesis imperfecta : detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR

Bibliographische Detailangaben

Veröffentlicht in:	American journal of human genetics 1991, Vol.48 (6), p.1186-1191
Hauptverfasser:	JIAPIAO ZHUANG, CONSTANTINOU, C. D, GANGULY, A, PROCKOP, D. J
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Diseases of the osteoarticular system Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences
Online-Zugang:	Volltext
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