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

Clinical Genetics

Volumn 50, Issue 5, 1996, Pages 310-316

  Van Diggelen, O P ^a   Zaremba, J ^b   He, Wang ^a   Keulemans, J L M ^a   Boer, A M ^a   Reuser, A J J ^a   Ausems, M G E M ^c   Smeitink, J A M ^d   Kowalczyk, J ^e   Pronicka, E ^f   Rokicki, D ^f   Tarnowska Dziduszko, E ^b   Kneppers, A L J ^g   Bakker, E ^g  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^c Clinical Genetics Center Utrecht   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e MEDICAL UNIVERSITY OF LUBLIN   (Poland)

^f CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^g LEIDEN UNIVERSITY   (Netherlands)

Author keywords

Asymptomatic; Late onset; Ornithine transcarbamylase deficiency; OTC deficiency

Indexed keywords

ALLOPURINOL; DNA; ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; CLINICAL ARTICLE; DNA DETERMINATION; ENZYME DEFICIENCY; FAMILY STUDY; FEMALE; GENE SEGREGATION; HUMAN; INFECTION; LIVER CARCINOMA; MALE; MISSENSE MUTATION; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 12644261446     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb02380.x     Document Type: Article

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