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Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation.

Authors :
Diggelen, O.P.
Zaremba, J.
He, Wang
Keulemans, J. L. M.
Boer, A. M.
Reuser, A. J. J.
Ausems, M. G. E. M.
Smeitink, J. A. M.
Kowalczyk, J.
Pronicka, E.
Rokicki, D.
Tarnowska-Dziduszko, E.
Kneppers, A. L. J.
Bakker, E.
Source :
Clinical Genetics; Nov1996, Vol. 50 Issue 5, p310-316, 7p
Publication Year :
1996

Details

Language :
English
ISSN :
00099163
Volume :
50
Issue :
5
Database :
Complementary Index
Journal :
Clinical Genetics
Publication Type :
Academic Journal
Accession number :
62616608
Full Text :
https://doi.org/10.1111/j.1399-0004.1996.tb02380.x
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