Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

Human Mutation

Volumn 17, Issue 2, 2001, Pages 103-116

  Delaunoy, Jean Pierre ^a,b,c   Abidi, Fatima ^a,b,c   Zeniou, Maria ^a   Jacquot, Sylvie ^b   Merienne, Karine ^c   Pannetier, Solange ^a   Schmitt, Michle ^b   Schwartz, Charles E ^c   Hanauer, André ^a,b  

^a UNIVERSITÉ DE STRASBOURG   (France)

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

^c GREENWOOD GENETIC CENTER   (United States)

Author keywords

CLS; Coffin Lowry syndrome; Diagnosis; Mental retardation; Ras MAPK pathway; Ribosomal protein S6 kinase 3; RPS6KA3; RSK2; X linked; XLMR

Indexed keywords

GENE PRODUCT; GROWTH FACTOR; PROTEIN KINASE; PROTEIN SERINE THREONINE KINASE; RAS PROTEIN;

ALLELE; ARTICLE; CHROMOSOME XP; COFFIN LOWRY SYNDROME; DNA POLYMORPHISM; FACE MALFORMATION; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM; SKELETON MALFORMATION; X CHROMOSOME LINKAGE;

ABNORMALITIES, MULTIPLE; GENOTYPE; HUMANS; LINKAGE (GENETICS); MENTAL RETARDATION; MUTATION; PHENOTYPE; REVIEW LITERATURE; RIBOSOMAL PROTEIN S6 KINASES; SYNDROME; X CHROMOSOME;

EID: 0035145479     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200102)17:2<103::AID-HUMU2>3.0.CO;2-N     Document Type: Article

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