Identification of two Novel Frameshift Mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy

Experimental and Molecular Pathology

Volumn 83, Issue 1, 2007, Pages 59-64

  Biagiotti, Laura ^a   Proverbio, Maria Carla ^a   Bosio, Laura ^b   Gervasi, Fabio ^d   Rovida, Ermanna ^c   Cerioni, Valeria ^b   Bove, Maddalena ^b   Valin, Paola Sogno ^b   Albarello, Luca ^e   Zamproni, Ilaria ^b   Grassi, Stefano ^e   Doglioni, Claudio ^e   Mora, Stefano ^b   Chiumello, Giuseppe ^b   Biunno, Ida ^c  

^a UNIVERSITY OF MILAN   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c INSTITUTE OF BIOMEDICAL TECHNOLOGIES   (Italy)

^d Kedrion SpA   (Italy)

^e VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BENZODIAZEPINE; DIAZOXIDE; OCTREOTIDE; PHENOBARBITAL; PHENYTOIN; PREDNISONE; PROTEIN DERIVATIVE; PROTEIN KCNJ11; SOMATOSTATIN; UNCLASSIFIED DRUG; VIGABATRIN;

ARTICLE; CASE REPORT; CODON; CONVULSION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GLUCOSE INFUSION; HETEROZYGOSITY; HUMAN; HYPERINSULINISM; HYPOGLYCEMIA; INFANCY; MALE; NEWBORN PERIOD; NUCLEOTIDE SEQUENCE; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PRESCHOOL CHILD; PROMOTER REGION; PSYCHOMOTOR RETARDATION; RNA TRANSLATION; TONIC CLONIC SEIZURE;

BASE SEQUENCE; CHILD, PRESCHOOL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; ITALY; MOLECULAR SEQUENCE DATA; MUTATION; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY; POTASSIUM CHANNELS, INWARDLY RECTIFYING; SEQUENCE ALIGNMENT;

EID: 34249668430     PISSN: 00144800     EISSN: 10960945     Source Type: Journal    
DOI: 10.1016/j.yexmp.2006.11.006     Document Type: Article

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