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Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.

We used complementation analysis as a probe for the detection of genetic heterogeneity within a single locus affected in a human disease, argininosuccinate lyase (L-argininosuccinate arginine-lyase, EC 4.3.2.1) deficiency. Fibroblasts cultured from 28 unrelated patients were fused in all possible pa...

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Detalles Bibliográficos
Main Authors: McInnes, R R, Shih, V, Chilton, S
Formato: Artigo
Idioma:Inglês
Publicado: 1984
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC345614/
https://ncbi.nlm.nih.gov/pubmed/6589607
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