Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation

American Journal of Medical Genetics

Volumn 93, Issue 4, 2000, Pages 294-298

  Bienvenu, Thierry ^a,g   Des Portes, Vincent ^a   McDonell, Nathalie ^a   Carrié, Alain ^a   Zemni, Ramzi ^a   Couvert, Philippe ^a   Ropers, Hilger H ^b   Moraine, Claude ^c   Van Bokhoven, Hans ^d   Fryns, Jean Pierre ^e   Allen, Kristina ^f   Walsh, Christopher A ^f   Boué, Joelle ^a   Kahn, Axel ^a   Chelly, Jamel ^a   Beldjord, Cherif ^a  

^a INSERM   (France)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c CHU BRETONNEAU   (France)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e Clinical Genetics Unit   (Belgium)

^f HARVARD MEDICAL SCHOOL   (United States)

^g INSTITUT COCHIN   (France)

Author keywords

PAK3; X linked mental retardation; Xq23

Indexed keywords

PROTEIN P21;

ARTICLE; CLINICAL ARTICLE; DISEASE ASSOCIATION; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; HUMAN; MENTAL DEFICIENCY; MISSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; HUMANS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MUTATION; PEDIGREE; PROTEIN-SERINE-THREONINE KINASES; X CHROMOSOME;

EID: 0034648492     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000814)93:4<294::AID-AJMG8>3.0.CO;2-F     Document Type: Article

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