Gene symbol: COL1A1. Disease: Osteogenesis imperfecta type I

Hum Genet. 2004 Mar;114(4):404.

Authors

I A Schafer¹, J Stein, J C Hyland, B Clark

Affiliation

¹ Metro Health Medical Center, Cleveland, Ohio 44109, USA. ias@po.cwru.edu

PMID: 15046069

No abstract available

Publication types

Case Reports

MeSH terms

Collagen Type I / biosynthesis
Collagen Type I / genetics*
Collagen Type I, alpha 1 Chain
Humans
Introns
Osteogenesis Imperfecta / classification
Osteogenesis Imperfecta / genetics*
Osteogenesis Imperfecta / metabolism
Point Mutation
RNA Splicing / genetics
RNA Stability
RNA, Messenger / genetics
RNA, Messenger / metabolism

Substances

Collagen Type I
Collagen Type I, alpha 1 Chain
RNA, Messenger