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.

Dokumenttyp:: Letter; Letter
Autor(en):: Lenski, C; Abidi, F; Meindl, A; Gibson, A; Platzer, M; Frank Kooy, R; Lubs, HA; Stevenson, RE; Ramser, J; Schwartz, CE
Titel:: 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.
Zeitschriftentitel:: Am J Hum Genet
Jahr:: 2004
Band / Volume:: 74
Heft / Issue:: 4
Seitenangaben Beitrag:: 777-80
Sprache:: eng
PubMed:: http://view.ncbi.nlm.nih.gov/pubmed/15024694
Print-ISSN:: 0002-9297
TUM Einrichtung:: Frauenklinik und Poliklinik
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