IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.

Human mutation

Volumn 24, Issue 3, 2004, Pages 273-

  Zhang, Yao Hua ^a   Huang, Bing Ling ^a   Niakan, Kathy K ^a   McCabe, Linda L ^a   McCabe, Edward R B ^a   Dipple, Katrina M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DAX-1 PROTEIN; DMD PROTEIN, HUMAN; DNA BINDING PROTEIN; DYSTROPHIN; GLYCEROL KINASE; IL1RAPL1 PROTEIN, HUMAN; INTERLEUKIN 1 RECEPTOR; INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN; NUCLEAR RECEPTOR DAX 1; REPRESSOR PROTEIN; RETINOIC ACID RECEPTOR;

ADRENAL GLAND; ARTICLE; CHILD; COMPARATIVE STUDY; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; GENE DELETION; GENE ORDER; GENETICS; HUMAN; PHYSIOLOGY; SYNDROME; X CHROMOSOME LINKED DISORDER; X LINKED MENTAL RETARDATION;

ADRENAL GLANDS; CHILD; DEVELOPMENTAL DISABILITIES; DNA-BINDING PROTEINS; DYSTROPHIN; GENE ORDER; GENETIC DISEASES, X-LINKED; GLYCEROL KINASE; HUMANS; INTERLEUKIN-1 RECEPTOR ACCESSORY PROTEIN; MENTAL RETARDATION, X-LINKED; RECEPTORS, INTERLEUKIN-1; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS; SEQUENCE DELETION; SYNDROME;

EID: 16644384244     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9269     Document Type: Article

References (0)