When is it MODY? Challenges in the interpretation of sequence variants in MODY genes

Review of Diabetic Studies

Volumn 12, Issue 3-4, 2015, Pages 330-348

  Althari, Sara ^a   Gloyn, Anna L ^a,b,c  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c NIHR OXFORD BIOMEDICAL RESEARCH CENTRE   (United Kingdom)

Author keywords

GCK; GWAS; HNF1A; MODY; Monogenic disease; Mutant allele; Next generation sequencing; Type 2 diabetes; Variant causality

Indexed keywords

BIOLOGICAL MARKER; C REACTIVE PROTEIN;

ALLELE; BREAST CANCER; DIABETES MELLITUS; GENE; GENE MUTATION; GENETIC VARIABILITY; GENOMICS; HIGH THROUGHPUT SCREENING; HOMOZYGOSITY; HUMAN; HYPOGLYCEMIA; MODY GENE; NONHUMAN; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PREVALENCE; REVIEW; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOCIAL SUPPORT; GENETICS; MUTATION; NON INSULIN DEPENDENT DIABETES MELLITUS; PHENOTYPE;

DIABETES MELLITUS, TYPE 2; HUMANS; MUTATION; PHENOTYPE;

EID: 84982279904     PISSN: 16136071     EISSN: 16140575     Source Type: Journal    
DOI: 10.1900/RDS.2015.12.330     Document Type: Review

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