Cole-Carpenter Syndrome Is Caused by a Heterozygous...

The American Journal of Human Genetics 2015 / 03 Vol. 96; Iss. 3

Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

Rauch, Frank, Fahiminiya, Somayyeh, Majewski, Jacek, Carrot-Zhang, Jian, Boudko, Sergei, Glorieux, Francis, Mort, John S., Bächinger, Hans-Peter, Moffatt, Pierre
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Volume:
96
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2014.12.027
Date:
March, 2015
File:
PDF, 994 KB
english, 2015
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