Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews

Human Molecular Genetics

Volumn 5, Issue 11, 1996, Pages 1813-1822

  Nestorowicz, Ann ^a   Wilson, Beth Anne ^a   Schoor, Kathleen P ^a   Inoue, Hiroshi ^a   Glaser, Benjamin ^b   Landau, Heddy ^b   Stanley, Charles A ^c   Thornton, Paul S ^c,e   Clement IV, John P ^d   Bryan, Joseph ^d   Aguilar Bryan, Lydia ^d   Permutt, M Alan ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HEBREW UNIVERSITY   (Israel)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL; RUBIDIUM 86; SULFONYLUREA; ABC TRANSPORTER; DRUG RECEPTOR; INWARDLY RECTIFYING POTASSIUM CHANNEL; RUBIDIUM; SULFONYLUREA RECEPTOR;

ANIMAL CELL; ARTICLE; CODON; CONTROLLED STUDY; EXON; GENE DELETION; GENE MUTATION; HAPLOTYPE; HUMAN; HYPERINSULINISM; HYPOGLYCEMIA; INTRON; JEW; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; NONHUMAN; NUCLEOTIDE SEQUENCE; PANCREAS ISLET BETA CELL; PRIORITY JOURNAL; RECEPTOR GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; ANIMAL; CELL STRAIN COS1; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENETIC TRANSFECTION; GENETICS; MALE; METABOLISM; MUTATION; POINT MUTATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ANIMALIA;

ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; COS CELLS; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; HAPLOTYPES; HYPERINSULINISM; JEWS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG; RUBIDIUM; SEQUENCE DELETION; TRANSFECTION;

EID: 0029658241     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.11.1813     Document Type: Article

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