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Titolo:
PHENOTYPIC VARIABILITY IN MALE-PATIENTS CARRYING THE MUTANT ORNITHINETRANSCARBAMYLASE (OTC) ALLELE, ARG40HIS, RANGING FROM A CHILD WITH ANUNFAVORABLE PROGNOSIS TO AN ASYMPTOMATIC OLDER ADULT
Autore:
MATSUDA I; MATSUURA T; NISHIYORI A; KOMAKI S; HOSHIDE R; MATSUMOTO T; FUNAKOSHI M; KIWAKI K; ENDO F; HATA A; SHIMADZU M; YOSHINO M;
Indirizzi:
KUMAMOTO UNIV,SCH MED,DEPT PAEDIAT KUMAMOTO 860 JAPAN KURUME UNIV,SCH MED,DEPT PAEDIAT & CHILD HLTH KURUME FUKUOKA 830 JAPAN FUKUOKA CHILDRENS HOSP,DEPT PAEDIAT FUKUOKA JAPAN FUKUOKA CHIDORIBASHI HOSP,DEPT MED FUKUOKA JAPAN HOKKAIDO UNIV,SCH MED,DEPT PUBL HLTH SAPPORO HOKKAIDO 060 JAPAN
Titolo Testata:
Journal of Medical Genetics
fascicolo: 8, volume: 33, anno: 1996,
pagine: 645 - 648
SICI:
0022-2593(1996)33:8<645:PVIMCT>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
JAPANESE MALE-PATIENTS; UREA CYCLE ENZYMOPATHIES; RETROSPECTIVE SURVEY; VALPROATE TOXICITY; DEFICIENCY; GENE; MUTATIONS; CARBAMOYLTRANSFERASE; POLYMORPHISMS; EXPRESSION;
Keywords:
UREA CYCLE DISORDERS; OTC DEFICIENCY; PHENOTYPIC VARIABILITY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
I. Matsuda et al., "PHENOTYPIC VARIABILITY IN MALE-PATIENTS CARRYING THE MUTANT ORNITHINETRANSCARBAMYLASE (OTC) ALLELE, ARG40HIS, RANGING FROM A CHILD WITH ANUNFAVORABLE PROGNOSIS TO AN ASYMPTOMATIC OLDER ADULT", Journal of Medical Genetics, 33(8), 1996, pp. 645-648

Abstract

In five different Japanese families, we identified six male hemizygotes (aged 6, 9, 15, 17, 56, and 65 years) and a putative candidate (aged 48 years), carrying a mutant allele of the ornithine transcarbamylase (OTC) gene, a G to A substitution at nucleotide 119 in exon 2 generating histidine in place of arginine. OTC activity in the necropsied Liver tissue was reduced to similar to 12% of the control and that of COS 1 cells transfected with Arg40His OTC cDNA was 10.2 +/- 1.8% of the control transfected with wild type OTC cDNA. Clinical features ranged from death during a hyperammonaemic attack (a 9 year old) to a 65 yearold asympto matic man. We consider that the amount of protein ingested by these subjects may be one predisposing factor leading to the manifestation of this disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 15:32:53