Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome

Molecular Genetics and Metabolism

Volumn 94, Issue 3, 2008, Pages 356-362

  Thiel, Christian T ^a   Knebel, Birgit ^b   Knerr, Ina ^a   Sticht, Heinrich ^a   Muller Wieland D ^c   Zenker, Martin ^a   Reis, Andre ^a   Dörr, Helmuth Günther ^a   Rauch, Anita ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b HEINRICH HEINE UNIVERSITY   (Germany)

^c DEPARTMENT OF CARDIOLOGY   (Germany)

Author keywords

Donohue syndrome; Hyperinsulinism; INSR; Insulin resistance; Leprechaunism; Rabson Mendenhall syndrome

Indexed keywords

INSULIN RECEPTOR; PHOSPHATIDYLINOSITOL 3 KINASE;

ADOLESCENT; ARTICLE; BINDING SITE; CASE REPORT; CLINICAL FEATURE; ELECTROPHORESIS; ENZYME ASSAY; FEMALE; FIBROBLAST; GENE MUTATION; GROWTH RETARDATION; HUMAN; HYPERGLYCEMIA; HYPERINSULINISM; IMMUNOFLUORESCENCE; INSULIN RESISTANCE; LEPRECHAUNISM; MALFORMATION SYNDROME; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN STRUCTURE; RABSON MENDENHALL SYNDROME; SEQUENCE ANALYSIS; SURVIVAL TIME; WESTERN BLOTTING;

ADOLESCENT; AMINO ACID SEQUENCE; ANTIGENS, CD; BASE SEQUENCE; CELL NUCLEUS; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; FEMALE; GROWTH DISORDERS; HUMANS; INSULIN; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN BINDING; PROTEIN SUBUNITS; RECEPTOR, INSULIN; SEQUENCE HOMOLOGY, NUCLEIC ACID; SYNDROME;

EID: 44649180961     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.02.013     Document Type: Article

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