Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome

PLoS ONE

Volumn 5, Issue 10, 2010, Pages

  Bonnefond, Amélie ^a   Durand, Emmanuelle ^a   Sand, Olivier ^a   de Graeve, Franck ^a   Gallina, Sophie ^a   Busiah, Kanetee ^b   Lobbens, Stéphane ^a   Simon, Albane ^b   Bellanné Chantelot, Christine ^c   Létourneau, Louis ^d   Scharfmann, Raphael ^b   Delplanque, Jérôme ^a   Sladek, Robert ^d   Polak, Michel ^b   Vaxillaire, Martine ^a   Froguel, Philippe ^a,e  

^a UNIV LILLE   (France)

^b INSERM   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d MCGILL UNIVERSITY   (Canada)

^e HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

INSULIN;

ABCC8 GENE; ADULT; ARTICLE; CASE REPORT; CHROMOSOME 6Q; CONTINUOUS INFUSION; CONTROLLED STUDY; DIABETES MELLITUS; EXON; GENE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; INS GENE; KCNJ11 GENE; MALE; NEWBORN DIABETES MELLITUS; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; CHROMOSOME 6; GENETICS; MOLECULAR DIAGNOSIS; MUTATION; NEWBORN; NEWBORN DISEASE;

CHROMOSOMES, HUMAN, PAIR 6; DIABETES MELLITUS; EXONS; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 78149439208     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0013630     Document Type: Article

References (14)

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