Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
about
Wolfram syndrome: new mutations, different phenotypeA novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.The other, forgotten genome: mitochondrial DNA and mental disorders.Medical care from childhood to adulthood in type 1 and type 2 diabetes.Systematic identification of human mitochondrial disease genes through integrative genomics.Molecular characterization of WFS1 in patients with Wolfram syndromeA homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.Current developments in Wolfram syndrome.Endocrine and metabolic aspects of the Wolfram syndrome.Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome.A Case of Persistent Polyuria in an Insulin- Dependent Child With Diabetes.Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings.The distribution and functional relevance analysis of runs of homozygosity (ROHs) in Chinese Han female population.Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1.Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India.Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan.Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies.WFS1 mutations in Spanish patients with diabetes mellitus and deafnessClinical Picture, Evolution and Peculiar Molecular Findings in a Very Large Pedigree with Wolfram Syndrome
P2860
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P2860
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
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2000 nî lūn-bûn
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2000 թուականի Մարտին հրատարակուած գիտական յօդուած
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2000 թվականի մարտին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
@zh-hk
2000年論文
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2000年論文
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name
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
@ast
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
@en
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
@nl
type
label
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
@ast
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
@en
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
@nl
prefLabel
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
@ast
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
@en
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
@nl
P2093
P2860
P356
P1476
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
@en
P2093
P2860
P304
P356
10.1086/302858
P407
P577
2000-03-14T00:00:00Z