De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.

Item
http://www.wikidata.org/entity/Q46814521
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
P2860

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.

Item
http://www.wikidata.org/entity/Q46814521
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
@zh-my
2013年学术文章
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2013年學術文章
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2013年學術文章
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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
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
De novo mutations of GCK, HNF1 ...... MODY than previously assumed.
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P698