Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional proα2(I) chain and an EDS/OI clinical phenotype.

Autor:	Nicholls, A. C., Valler, D., Wallis, S., Pope, F. M.
Předmět:	LETTERS to the editor GENETIC mutation
Zdroj:	Journal of Medical Genetics; Feb2001, Vol. 38 Issue 2, p132-135, 4p, 1 Diagram, 1 Graph
Abstrakt:	Presents a letter to the editor about the homozygosity for a splice site mutation of the COL1A2 gene.
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu