Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene

Molecular Genetics and Metabolism Reports

Volumn 1, Issue 1, 2014, Pages 71-84

  Ardon, O ^a,b   Procter, M ^a   Tvrdik, T ^a   Longo, N ^a,b   Mao, R ^a,b  

^a ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Donohue syndrome; Insulin receptor; Insulin resistance; Leprechaunism; Rabson Mendenhall syndrome; Sequencing

Indexed keywords

INSULIN RECEPTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; FETUS; GENE AMPLIFICATION; GENE MUTATION; GENE PRODUCT; GROWTH DISORDER; HUMAN; INSULIN RESISTANCE; LEPRECHAUNISM; MALE; MISSENSE MUTATION; NEWBORN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; RABSON MENDENHALL SYNDROME; SEQUENCE ANALYSIS; STOP CODON; TRANSCRIPTION INITIATION SITE; TRANSLATION INITIATION;

EID: 84905179328     PISSN: None     EISSN: 22144269     Source Type: Journal    
DOI: 10.1016/j.ymgmr.2013.12.006     Document Type: Article

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