Congenital hyperinsulinism: Molecular basis of a heterogeneous disease

Human Mutation

Volumn 13, Issue 5, 1999, Pages 351-361

  Meissner, Thomas ^a   Beinbrech, Beatrice ^a   Mayatepek, Ertan ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

Congenital hyperinsulinism; Glucokinase; GLUD1; Glutamate dehydrogenase; Hyperammonemia; KATP; KCNJ11; Kir6.2; Loss of heterozygosity; Nesidioblastosis; Persistent hyperinsulinemic hypoglycemia of infancy; Sulfonylurea receptor; SUR; SUR1

Indexed keywords

DIAZOXIDE; GLUCOKINASE; GLUTAMATE DEHYDROGENASE; OCTREOTIDE; SULFONYLUREA RECEPTOR;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN INJURY; CHROMOSOME 11P; COMA; GENETIC LINKAGE; HETEROZYGOSITY LOSS; HUMAN; HYPERINSULINEMIA; HYPOGLYCEMIA; INSULIN RELEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

DIABETES MELLITUS, TYPE 2; GLUCOKINASE; GLUTAMATE DEHYDROGENASE; HUMANS; HYPERINSULINISM; INSULIN; LOSS OF HETEROZYGOSITY; MEMBRANE PROTEINS; MODELS, BIOLOGICAL; MUTATION; POLYMORPHISM, GENETIC; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; REPRESSOR PROTEINS; SACCHAROMYCES CEREVISIAE PROTEINS;

EID: 0032942836     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R     Document Type: Article

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