A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.

Authors	J Lu, T Costa, W G Cole
Journal	Human mutation (Hum Mutat) Vol. 5 Issue 2 Pg. 175-8 ( 1995) ISSN: 1059-7794 [Print] United States
PMID	7749416 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	Collagen Alanine Glycine
Topics	Alanine Base Sequence Collagen (chemistry, genetics) Female Glycine Heterozygote Humans Male Molecular Sequence Data Nucleic Acid Conformation Osteogenesis Imperfecta (classification, genetics) Pedigree Phenotype Point Mutation

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!