Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome

Journal of Medical Genetics

Volumn 35, Issue 11, 1998, Pages 890-894

  Merienne, K ^a   Jacquot, S ^a   Trivier, E ^a   Pannetier, S ^a   Rossi, A ^b   Scott, Charles ^f   Schinzel, A ^d   Castellan, C ^e   Kress, W ^c   Hanauer, A ^a  

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

^b Ctr Reg de Transfusion Sanguine   (France)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d UNIVERSITY OF ZURICH   (Switzerland)

^e Azienda Sanitaria Bolzano   (Italy)

^f NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

Author keywords

Coffin Lowry syndrome; Diagnosis; Protein assays

Indexed keywords

COMPLEMENTARY DNA; GROWTH FACTOR; PHOSPHOTRANSFERASE; PROTEIN; PROTEIN RSK2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CELL CULTURE; CLINICAL ARTICLE; CLINICAL FEATURE; COFFIN LOWRY SYNDROME; DELETION MUTANT; DIAGNOSTIC TEST; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME REGULATION; FACE MALFORMATION; FIBROBLAST CULTURE; GENE MUTATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; HAND MALFORMATION; HUMAN; IMMUNOBLOTTING; LYMPHOBLASTOID CELL LINE; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SCHOOL CHILD; SKELETON MALFORMATION; TRANSLATION REGULATION; X CHROMOSOME LINKAGE;

EID: 17344365056     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.11.890     Document Type: Article

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