Stop Codon in the Procollagen II Gene (COL2A1) in a Family with the Stickler Syndrome (Arthro-Ophthalmopathy)

Autor: Ahmad, Nilofer Nina, Ala-Kokko, Leena, Knowlton, Robert G., Jimenez, Sergio A., Weaver, Eric J., Maguire, Joseph I., Tasman, William, Prockop, Darwin J.
Zdroj: Proceedings of the National Academy of Sciences of the United States of America, 1991 Aug 01. 88(15), 6624-6627.
Databáze: JSTOR Journals