Substitution of arginine for glycine at position 154 of the α1 chain of type I collagen in a variant of osteogenesis imperfecta: Comparison to previous cases with the same mutation

American Journal of Medical Genetics

Volumn 61, Issue 2, 1996, Pages 111-116

  Zhuang, Jiapiao ^a   Tromp, Gerard ^a,c   Kuivaniemi, Helena ^a   Castells, Salvador ^b   Prockop, Darwin J ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b University Hospital of Brooklyn   (United States)

^c WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

direct sequencing of PCR products; phenotype variability; single base mutation

Indexed keywords

COLLAGEN TYPE 1;

ADULT; ARTICLE; CASE REPORT; EPISTASIS; FAMILIAL DISEASE; FEMALE; HUMAN; MALE; OSTEOGENESIS IMPERFECTA; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0030059889     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19960111)61:2<111::aid-ajmg1>3.0.co;2-%23     Document Type: Article

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