Seven new mutations in the human ornithine transcarbamylase gene

The following novel mutations have been found: R40H, P225T, R277Q, G195R, R129H, 309 del GLU, and I99 del TA. We report on seven new mutations in the OTC gene found in eight patients with OTC deficiency and which reflect the wide spectrum of this disorder.

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Bibliographische Detailangaben
Veröffentlicht in:	Human mutation 1994, Vol.4 (1), p.57-60
Hauptverfasser:	Tuchman, Mendel, Plante, Robert J., McCann, Mark T., Qureshi, Amber A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Amino Acid Metabolism, Inborn Errors - enzymology Amino Acid Metabolism, Inborn Errors - genetics Ammonia - blood Base Sequence Child Child, Preschool Codon - genetics DNA - genetics DNA Mutational Analysis DNA, Single-Stranded - genetics Female Humans Infant Infant, Newborn Male Molecular Sequence Data Mutation Ornithine Carbamoyltransferase - genetics Ornithine Carbamoyltransferase Deficiency Disease Phenotype Polymorphism, Genetic
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Beschreibung
Zusammenfassung:	The following novel mutations have been found: R40H, P225T, R277Q, G195R, R129H, 309 del GLU, and I99 del TA. We report on seven new mutations in the OTC gene found in eight patients with OTC deficiency and which reflect the wide spectrum of this disorder.
ISSN:	1059-7794 1098-1004
DOI:	10.1002/humu.1380040109