The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family (Q83217870)

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20 January 2020

title

The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family (English)

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20 January 2020

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Jie Hong

1

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20 January 2020

Yu-Wen Zhang

2

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20 January 2020

Hui-Jie Zhang

3

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20 January 2020

Hui-Ying Jia

4

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20 January 2020

Yu Zhang

5

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20 January 2020

Xiao-Yi Ding

6

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20 January 2020

Dan-Yang Zhou

7

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20 January 2020

Hui-Ping Chen

8

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20 January 2020

Xiao-Hua Jiang

9

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20 January 2020

Bin Cui

10

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20 January 2020

Xiao-Ying Li

11

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20 January 2020

Guang Ning

12

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20 January 2020

publication date

22 January 2009

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20 January 2020

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20 January 2020

volume

35

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20 January 2020

issue

2

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20 January 2020

page(s)

151-157

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A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

20 January 2020

cites work

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12 December 2020

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome)

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12 December 2020

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

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12 December 2020

WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain

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12 December 2020

Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion

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12 December 2020

Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q

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12 December 2020

Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4

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12 December 2020

Role of early fundoscopy for diagnosis of Wolfram syndrome in type 1 diabetic patients

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12 December 2020

Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy.

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12 December 2020

The mitochondrial genome in Wolfram syndrome

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12 December 2020

Urological manifestations of the Wolfram syndrome: observations in 14 patients

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12 December 2020

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees

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12 December 2020

Juvenile onset diabetes mellitus, central diabetes insipidus and optic atrophy (Wolfram syndrome)--neurological findings and prognostic implications

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12 December 2020

Morbidity and mortality in the Wolfram syndrome

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12 December 2020

Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes

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12 December 2020

Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness

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12 December 2020

Mitochondrial DNA studies in Wolfram (DIDMOAD) syndrome

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12 December 2020

Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation

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12 December 2020

Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature

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12 December 2020

Psychiatric disorders in 36 families with Wolfram syndrome

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12 December 2020

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome

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12 December 2020

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome

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12 December 2020

[Positional cloning of the gene(WFS1) for Wolfram syndrome]

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12 December 2020

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.

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12 December 2020

[Wolfram syndrome. Urologic implications]

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12 December 2020

Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.

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12 December 2020

Wolfram syndrome: a neuropathological study

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12 December 2020

Neurologic manifestations in Wolfram's syndrome

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12 December 2020

Growth hormone deficiency and empty sella in DIDMOAD syndrome: an endocrine study

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12 December 2020

Psychiatric findings in Wolfram syndrome homozygotes

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12 December 2020

Mitochondrial abnormalities in the DIDMOAD syndrome

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12 December 2020

Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1

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12 December 2020

10.1007/S12020-009-9145-7

Identifiers

DOI

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20 January 2020

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