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.

Document type:: Letter; Letter
Author(s):: Lenski, C; Abidi, F; Meindl, A; Gibson, A; Platzer, M; Frank Kooy, R; Lubs, HA; Stevenson, RE; Ramser, J; Schwartz, CE
Title:: 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.
Journal title abbreviation:: Am J Hum Genet
Year:: 2004
Journal volume:: 74
Journal issue:: 4
Pages contribution:: 777-80
Language:: eng
Pubmed ID:: http://view.ncbi.nlm.nih.gov/pubmed/15024694
Print-ISSN:: 0002-9297
TUM Institution:: Frauenklinik und Poliklinik
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