Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations

Gene

Volumn 516, Issue 1, 2013, Pages 122-125

  Faletra, Flavio ^a   Snider, Kara ^b   Shyng, Show Ling ^d   Bruno, Irene ^a   Athanasakis, Emmanouil ^a   Gasparini, Paolo ^a   Dionisi Vici, Carlo ^c   Ventura, Alessandro ^a   Zhou, Qing ^d   Stanley, Charles A ^b   Burlina, Alberto ^e  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e UNIVERSITY HOSPITAL OF PADOVA   (Italy)

Author keywords

ABCC8; Congenital hyperinsulinism; Functional study; Mutation

Indexed keywords

ABC TRANSPORTER; ATP BINDING CASSETTE TRANSPORTER SUBFAMILY C MEMBER 8; DIAZOXIDE; GLUTAMIC ACID; INSULIN; METHIONINE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CELL SURFACE; CHILD; DISEASE PREDISPOSITION; ENDOPLASMIC RETICULUM; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECESSIVE INHERITANCE; RUMINANT STOMACH; TREATMENT RESPONSE;

ATP-BINDING CASSETTE TRANSPORTERS; CHILD, PRESCHOOL; CONGENITAL HYPERINSULINISM; DIAZOXIDE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; INSULIN; INSULIN-SECRETING CELLS; MALE; MUTATION; PEDIGREE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG; SEQUENCE ANALYSIS, DNA;

EID: 84873099173     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.12.055     Document Type: Article

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