Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

Diabetologia

Volumn 56, Issue 9, 2013, Pages 1958-1963

  Ellard, S ^a   Lango Allen, H ^a   De Franco, E ^a   Flanagan, S E ^a   Hysenaj, G ^a   Colclough, K ^a   Houghton, J A L ^a   Shepherd, M ^a   Hattersley, A T ^a   Weedon, M N ^a   Caswell, R ^a  

^a UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

Author keywords

Genetic diagnosis; MIDD; MODY; Monogenic diabetes; Neonatal diabetes; Next generation sequencing

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; GENE DELETION; GENE DUPLICATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INDEL MUTATION; MAJOR CLINICAL STUDY; MATERNALLY INHERITED DIABETES AND DEAFNESS; MONOGENIC DIABETES; MONOGENIC DISORDER; MUTATIONAL ANALYSIS; NEWBORN DIABETES MELLITUS; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TARGETED NEXT GENERATION SEQUENCING;

DIABETES MELLITUS, TYPE 2; FEMALE; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT, NEWBORN; MALE; MUTATION;

EID: 84881614898     PISSN: 0012186X     EISSN: 14320428     Source Type: Journal    
DOI: 10.1007/s00125-013-2962-5     Document Type: Article

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