De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.
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Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY.Characteristics of maturity onset diabetes of the young in a large diabetes center.Assessment of Newly Proposed Clinical Criteria to Identify HNF1A MODY in Patients with an Initial Diagnosis of Type 1 or Type 2 Diabetes Mellitus.When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.Monogenic diabetes: Implementation of translational genomic research towards precision medicine.ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): Clinical Features and Treatment Perspective.Clinical utility gene card for: Maturity-onset diabetes of the young.Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations.Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.Glucokinase mutations in pediatric patients with impaired fasting glucose.Chromosome 6q24-related diabetes mellitus.Hidden MODY-Looking for a Needle in a Haystack.The diagnosis and management of monogenic diabetes in children and adolescents
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P2860
De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
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2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
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2013年學術文章
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2013年學術文章
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name
De novo mutations of GCK, HNF1 ...... MODY than previously assumed.
@en
De novo mutations of GCK, HNF1 ...... MODY than previously assumed.
@nl
type
label
De novo mutations of GCK, HNF1 ...... MODY than previously assumed.
@en
De novo mutations of GCK, HNF1 ...... MODY than previously assumed.
@nl
prefLabel
De novo mutations of GCK, HNF1 ...... MODY than previously assumed.
@en
De novo mutations of GCK, HNF1 ...... MODY than previously assumed.
@nl
P2093
P2860
P50
P1433
P1476
De novo mutations of GCK, HNF1 ...... MODY than previously assumed.
@en
P2093
Daniela Gasperikova
Daniela Stanikova
Iwar Klimes
Juraj Stanik
Lenka Dusatkova
Lucia Valentinova
Mikulas Pura
Miroslava Huckova
Petra Dusatkova
Stepanka Pruhova
P2860
P2888
P304
P356
10.1007/S00125-013-3119-2
P407
P577
2013-12-10T00:00:00Z