Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

Molecular Genetics and Metabolism

Volumn 113, Issue 4, 2014, Pages 315-320

  Alkorta Aranburu, G ^a   Carmody, D ^a   Cheng, Y W ^a   Nelakuditi, V ^a   Ma, L ^a   Dickens, Jazzmyne T ^a   Das, S ^a   Greeley, S A W ^a   del Gaudio, D ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

Diagnostic evaluation; Monogenic diabetes; Next generation sequencing; Targeted sequencing

Indexed keywords

ADULT; ARTICLE; BONE DEVELOPMENT; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; DIABETES MELLITUS; DIAGNOSTIC VALUE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC PREDISPOSITION; GENETIC SCREENING; HUMAN; MALE; MONOGENIC DIABETES MELLITUS; MONOGENIC DISORDER; NON INSULIN DEPENDENT DIABETES MELLITUS; PANEL BASED NEXT GENERATION SEQUENCING; PHENOTYPE; DIABETES MELLITUS, TYPE 2; DNA SEQUENCE; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; MUTATION; PRESCHOOL CHILD; PROCEDURES; UNITED STATES;

CHILD, PRESCHOOL; CONSANGUINITY; DIABETES MELLITUS; DIABETES MELLITUS, TYPE 2; FEMALE; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA; UNITED STATES;

EID: 84919326785     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.09.007     Document Type: Article

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