Two novel insulin receptor gene mutations in a patient with rabson-mendenhall syndrome: The first Korean case confirmed by biochemical, and molecular evidence

Journal of Korean Medical Science

Volumn 27, Issue 5, 2012, Pages 565-568

  Kim, Doosoo ^a   Cho, Sung Yoon ^a   Yeau, Sung Hee ^b   Park, Sung Won ^a   Sohn, Young Bae ^a   Kwon, Min Jung ^a   Kim, Ji Yeon ^a   Ki, Chang Seok ^a   Jin, Dong Kyu ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Ewha Womans University   (South Korea)

Author keywords

INSR; Insulin Resistance; Rabson Mendenhall Syndrome; Receptor, Insulin

Indexed keywords

ANTIDIABETIC AGENT; C PEPTIDE; INSULIN; INSULIN RECEPTOR;

ARTICLE; ASIAN; BLOOD; CASE REPORT; DNA SEQUENCE; GENETICS; GLUCOSE BLOOD LEVEL; HETEROZYGOTE; HUMAN; INFANT; LEPRECHAUNISM; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; SOUTH KOREA; STOP CODON;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BLOOD GLUCOSE; C-PEPTIDE; CODON, NONSENSE; DONOHUE SYNDROME; HETEROZYGOTE; HUMANS; HYPOGLYCEMIC AGENTS; INFANT; INSULIN; MALE; MUTATION, MISSENSE; RECEPTOR, INSULIN; REPUBLIC OF KOREA; SEQUENCE ANALYSIS, DNA;

EID: 84862844104     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2012.27.5.565     Document Type: Article

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