The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

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Bibliographic Details
Title: The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.
Authors: Bhalla K; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Phillips HA; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Crawford J; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., McKenzie OLD; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Mulley JC; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Eyre H; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Gardner AE; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Kremmidiotis G; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Callen DF; Department of Medicine, Breast Cancer Genetics Group, Hanson Institute (North Building), Institute of Medical and Veterinary Science, University of Adelaide, P.O. Box 14, Rundle Mall, Adelaide, South Australia, 5000, Australia. david.callen@imvs.sa.gov.au.
Source: Journal of human genetics [J Hum Genet] 2004; Vol. 49 (6), pp. 308-311. Date of Electronic Publication: 2004 May 18.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1434-5161 (Print) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1434-5161
DOI:10.1007/s10038-004-0145-4