Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

Item
http://www.wikidata.org/entity/Q53797787
An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cellsPrenatal diagnosis of inherited metabolic diseases.Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasiaEfficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal XqCharacterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity.
P2860

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

Item
http://www.wikidata.org/entity/Q53797787
description
1985 nî lūn-bûn
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name
Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.
@en
Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.
@nl
type
label
Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.
@en
Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.
@nl
prefLabel
Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.
@en
Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.
@en
P2093
P304
P31
P356
10.1016/S0140-6736(85)91966-X
P407
P433
P478
P577
P698