Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance

Clinical Endocrinology

Volumn 76, Issue 4, 2012, Pages 540-547

  Alzahrani, Ali S ^a   Zou, Minjing ^a   Baitei, Essa Y ^a   Parhar, Ranjit S ^a   Al Kahtani, Nora ^a   Raef, Hussein ^a   Almahfouz, Abdulraof ^a   Amartey, John K ^a   Al Rijjal, Roua ^a   Hammami, Rakad ^a   Meyer, Brian F ^a   Al Mohanna, Futwan A ^a   Shi, Yufei ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; INSULIN RECEPTOR; METFORMIN; PIOGLITAZONE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOPHOSPHORYLATION; CELL SURFACE; CHILD; CHO CELL; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FOUNDER EFFECT; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; HAPLOTYPE; HORMONE RECEPTOR INTERACTION; HUMAN; INSULIN BINDING; LIGAND BINDING; MALE; METABOLIC SYNDROME X; MICROSATELLITE INSTABILITY; MOLECULAR CLONING; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PHOSPHORYLATION; RECEPTOR GENE; SAUDI ARABIA; SCHOOL CHILD; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SITE DIRECTED MUTAGENESIS; SPECIES; TREATMENT RESPONSE; WESTERN BLOTTING; WILD TYPE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INSULIN RESISTANCE; MALE; MIDDLE AGED; MUTATION; RECEPTOR, INSULIN; YOUNG ADULT;

EID: 84857817733     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2011.04258.x     Document Type: Article

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