Coffin-Lowry syndrome: Current status [1]

American Journal of Medical Genetics

Volumn 85, Issue 3, 1999, Pages 214-215

  Jacquot, S ^a   Merienne, K ^a   Trivier, E ^a   Zeniou, M ^a   Pannetier, S ^a   Hanauer, A ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SERINE THREONINE KINASE;

AMINO ACID SUBSTITUTION; CHROMOSOME IDENTIFICATION; CHROMOSOME MOSAICISM; DIAGNOSTIC APPROACH ROUTE; GENE MUTATION; GENE STRUCTURE; GENOTYPE; LETTER; MENTAL DEFICIENCY; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SKELETON MALFORMATION;

ABNORMALITIES, MULTIPLE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MENTAL RETARDATION; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RIBOSOMAL PROTEIN S6 KINASES; SYNDROME;

EID: 0033001277     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990730)85:3<214::AID-AJMG5>3.0.CO;2-1     Document Type: Letter

References (7)