A compound heterozygous mutation in DPAGT1 results in a...

European Journal of Human Genetics 2013 / 8 Vol. 21; Iss. 8

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

Iqbal, Zafar, Shahzad, Mohsin, Vissers, Lisenka E L M, van Scherpenzeel, Monique, Gilissen, Christian, Razzaq, Attia, Zahoor, Muhammad Yasir, Khan, Shaheen N, Kleefstra, Tjitske, Veltman, Joris A, de
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Volume:
21
Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2012.257
Date:
August, 2013
File:
PDF, 1.60 MB
english, 2013
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