Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly

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Detalles Bibliográficos
Autores principales: Lenski, Claus, Abidi, Fatima, Meindl, Alfons, Gibson, Alice, Platzer, Matthias, Frank Kooy, R., Lubs, Herbert A., Stevenson, Roger E., Ramser, Juliane, Schwartz, Charles E.
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2004
Materias:
Letter to the Editor
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181956/
https://ncbi.nlm.nih.gov/pubmed/15024694
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