Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.

Molybdenum cofactor deficiency (MoCoD) is a fatal disorder manifesting, shortly after birth, with profound neurological abnormalities, mental retardation, and severe seizures unresponsive to any therapy. The disease is a monogenic, autosomal recessive disorder, and the existence of at least two comp...

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Autors principals: Shalata, A, Mandel, H, Reiss, J, Szargel, R, Cohen-Akenine, A, Dorche, C, Zabot, M T, Van Gennip, A, Abeling, N, Berant, M, Cohen, N
Format: Artigo
Idioma:Inglês
Publicat: 1998
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377237/
https://ncbi.nlm.nih.gov/pubmed/9634514
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