Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome

European Journal of Medical Genetics

Volumn 56, Issue 3, 2013, Pages 150-152

  Schneider, Anne ^a   Maas, Saskia M ^b   Hennekam, Raoul C M ^b   Hanauer, André ^a  

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

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Coffin Lowry syndrome; Deep intronic mutation; RPS6KA3 gene; RSK2 protein; X linked mental retardation

Indexed keywords

AMINO ACID; GENOMIC DNA; MESSENGER RNA; MITOGEN ACTIVATED PROTEIN KINASE;

ABSENCE; ADULT; ALLELE; BRAIN AQUEDUCT STENOSIS; BRAIN VENTRICLE DILATATION; CASE REPORT; COFFIN LOWRY SYNDROME; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL DISORDER; EPITOPE MAPPING; EXON; FACIES; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; GRAND MAL EPILEPSY; GROWTH RETARDATION; HUMAN; IMMUNOBLOTTING; INTELLECTUAL IMPAIRMENT; INTRON; JOINT LAXITY; LETTER; MALE; MUSCLE HYPOTONIA; NONSENSE MEDIATED MRNA DECAY; PERCEPTION DEAFNESS; SCOLIOSIS; SPINE SURGERY; STOP CODON; WILD TYPE;

ALLELES; BASE SEQUENCE; COFFIN-LOWRY SYNDROME; EXONS; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; RIBOSOMAL PROTEIN S6 KINASES, 90-KDA; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84874315353     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.11.007     Document Type: Letter

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