A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation [1]

Nature Genetics

Volumn 22, Issue 1, 1999, Pages 13-14

  Merienne, K ^a   Jacquot, S ^a   Pannetier, S ^a   Zeniou, M ^a   Bankier, A ^a   Gecz, J ^a   Mandel, J L ^a   Mulley, J ^a   Sassone Corsi, P ^a   Hanauer, A ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME ACTIVITY; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; HUMAN; LETTER; MENTAL DEFICIENCY; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; X CHROMOSOME LINKED DISORDER;

AMINO ACID SEQUENCE; BASE SEQUENCE; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN KINASES; RIBOSOMAL PROTEIN S6 KINASES, 90-KDA; X CHROMOSOME;

EID: 0032910443     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/8719     Document Type: Letter

References (14)