1.
Hum Genet
; 96(5): 549-51, 1995 Nov.
Article
in English
| MEDLINE
| ID: mdl-8530002
ABSTRACT
Four novel mutations are identified in the ornithine transcarbamylase (OTC) gene, in four patients with OTC deficiency (an X-linked disorder). The mutations represent three different categories: missense (Ile159Thr and Ala209Val), nonsense (Tyr167Stop), and causing inefficient splicing (G-->A in the first intronic base) with associated aberrant splicing. They are located in exons 5, and 6, and in intron 3. Two of the mutations arose de novo in the patients, and only one mutation occurs at a CpG site. The nonsense and the splicing mutation cause, respectively, lethal early onset and non-lethal, delayed early onset clinical presentations in males. Our results confirm for Spain the high genotypic heterogeneity of OTC deficiency.
Subject(s)
Mutation , Ornithine Carbamoyltransferase Deficiency Disease , Base Sequence , Humans , Infant, Newborn , Male , Molecular Sequence Data , Polymerase Chain Reaction , Spain
2.
Acta Gastroenterol Latinoam
; 2(3): 143-8, 1970.
Article
in Spanish
| MEDLINE
| ID: mdl-5528005
3.
4.
Acta gastroenterol. latinoam
; 2(3): 143-8, 1970.
Article
in Spanish
|
LILACS-Express
| BINACIS
| ID: biblio-1157239