Dominant Form of Congenital Hyperinsulinism Maps to HK1 Region on 10q

Hormone Research in Paediatrics

Volumn 80, Issue 1, 2013, Pages 18-27

  Pinney, Sara E ^a,b   Ganapathy, Karthik ^a   Bradfield, Jonathan ^a   Stokes, David ^a   Sasson, Ariella ^a   Mackiewicz, Katarzyna ^b   Boodhansingh, Kara ^a   Hughes, Nkecha ^a   Becker, Susan ^a   Givler, Stephanie ^a   Macmullen, Courtney ^a   Monos, Dimitrios ^b   Ganguly, Arupa ^b   Hakonarson, Hakon ^a,b   Stanley, Charles A ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Beta cell; Genetics; Hyperinsulinism; Hypoglycemia; Insulin secretion

Indexed keywords

CORTICOTROPIN; DIAZOXIDE; GLUCOSE; HEXOKINASE 1; INSULIN; TRANSCRIPTOME; ANTIDIABETIC AGENT; DNA2; GENOMIC DNA; HEPATOCYTE NUCLEAR FACTOR 4; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; NEUROGENIN 3; PROTEIN; SIRTUIN 1; UNCLASSIFIED DRUG; UNCOUPLING PROTEIN 2;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHROMOSOME 10Q; CLINICAL ARTICLE; CRYING; ENDOCRINE PANCREAS FUNCTION TEST; EXON; FEMALE; GENE LOCUS; GENE SEQUENCE; GLUCOSE BLOOD LEVEL; HAPLOTYPE; HEADACHE; HUMAN; HYPOGLYCEMIA; INSULIN RELEASE; INSULIN RESISTANCE; INSULIN RESPONSE; IRRITABILITY; KETOGENESIS; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; NERVOUSNESS; ORAL GLUCOSE TOLERANCE TEST; PANCREAS RESECTION; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN TOLERANCE TEST; SCHOOL CHILD; TONIC CLONIC SEIZURE; CLINICAL FEATURE; DIET RESTRICTION; DISEASE ASSOCIATION; GENE MAPPING; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; GENOME ANALYSIS; HEALTH SURVEY; NEXT GENERATION SEQUENCING; PHENOTYPIC VARIATION; SEIZURE;

EID: 84880181355     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000351943     Document Type: Article

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