Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

Human Molecular Genetics

Volumn 10, Issue 8, 2001, Pages 797-806

  Nothwang, Hans Gerd ^a,b   Kim, H G ^a   Aoki, J ^c   Geisterfer, M ^d   Kubart S ^a   Wegner, R D ^e   Van Moers, A ^e   Ashworth, L K ^f   Haaf, T ^a   Bell, J ^d   Arai, H ^c   Tommerup, N ^g   Ropers, H H ^a,h   Wirth, J ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b Rheinland Pfälzische Technische Universität Kaiserslautern Landau   (Germany)

^c UNIVERSITY OF TOKYO   (Japan)

^d OTTAWA REGIONAL CANCER CENTRE   (Canada)

^e FREIE UNIVERSITÄT BERLIN   (Germany)

^f LAWRENCE LIVERMORE NATIONAL LABORATORY   (United States)

^g IMBG ^*  (Denmark)

^h RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

1 ALKYL 2 ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; CLK 2 PROTEIN; GENE PRODUCT; HETEROTRIMERIC GUANINE NUCLEOTIDE BINDING PROTEIN; HYBRID PROTEIN; LIS 1 PROTEIN; PROTEIN KINASE; UNCLASSIFIED DRUG;

ADULT; ALU SEQUENCE; ARTICLE; ATAXIA; BRAIN ATROPHY; BRAIN DEVELOPMENT; BRAIN FUNCTION; CANCER; CASE REPORT; CHROMOSOME 19Q; CHROMOSOME 1Q; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION 1; CHROMOSOME TRANSLOCATION 19; COMPLEX FORMATION; CONTROLLED STUDY; FEMALE; FUSION GENE; GENE ACTIVITY; GENE EXPRESSION; GENETIC RECOMBINATION; HEMIZYGOSITY; HUMAN; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SEQUENCE ANALYSIS;

ATAXIA;

EID: 0035311366     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.8.797     Document Type: Article

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