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. [electronic resource]
Producer: 20040510Description: 777-80 p. digitalISSN:- 0002-9297
- Abnormalities, Multiple -- genetics
- Amino Acid Sequence
- Base Sequence
- Carrier Proteins
- DNA-Binding Proteins
- Female
- Genetic Diseases, X-Linked -- genetics
- Humans
- Intellectual Disability -- complications
- Male
- Microcephaly -- complications
- Molecular Sequence Data
- Mutation -- genetics
- Nuclear Proteins -- chemistry
- Pedigree
- Syndrome
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Publication Type: Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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