Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).

We recently reported a new X-linked mental retardation (XLMR) disorder in a four-generation family of Dutch descent. Features included Dandy-Walker malformation, basal ganglia disease, and seizures. Twenty-six family members, including two living affected males and two obligate carriers, were availa...

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Autors principals: Huang, T H, Hejtmancik, J F, Edwards, A, Pettigrew, A L, Herrera, C A, Hammond, H A, Caskey, C T, Zoghbi, H Y, Ledbetter, D H
Format: Artigo
Idioma:Inglês
Publicat: 1991
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1686460/
https://ncbi.nlm.nih.gov/pubmed/1746558
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