A Novel Missense Mutation in SRD5A3...

Journal of Inborn Errors of Metabolism & Screening 2014 / 03 Vol. 2

A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)

Al-Sarraj, Yasser, Ben-Omran, Tawfeg, Tolefat, Mohammed, Bejaoui, Yosra, El-Shanti, Hatem, Kambouris, Marios
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Volume:
2
Language:
english
Journal:
Journal of Inborn Errors of Metabolism and Screening
DOI:
10.1177/2326409814550528
Date:
March, 2014
File:
PDF, 427 KB
english, 2014
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