(Q48245953)

9 February 2018

title

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. (English)

1 reference

9 February 2018

1 reference

7

1 reference

9 February 2018

Bruno Dallapiccola

9

1 reference

9 February 2018

author name string

Alessia Colosimo

1

1 reference

9 February 2018

Valentina Guida

2

1 reference

9 February 2018

Luciana Rigoli

3

1 reference

9 February 2018

Chiara Di Bella

4

1 reference

9 February 2018

Alessandro De Luca

5

1 reference

9 February 2018

Silvana Briuglia

6

1 reference

9 February 2018

Damiano Carmelo Salpietro

8

1 reference

9 February 2018

publication date

1 June 2003

1 reference

9 February 2018

published in

Human Mutation

1 reference

9 February 2018

volume

21

1 reference

9 February 2018

issue

6

1 reference

9 February 2018

page(s)

622-629

1 reference

9 February 2018

Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

Wolfram (DIDMOAD) syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

The mitochondrial genome in Wolfram syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

Wolfram syndrome: a mitochondrial-mediated disorder?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

Mitochondrial abnormalities in the DIDMOAD syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

Reliability of DHPLC in mutational screening of ?-globin (HBB) alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

NF1 gene analysis based on DHPLC

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

WFS1 mutations in Spanish patients with diabetes mellitus and deafness

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

Reflexions on a newly discovered diabetogenic gene, wolframin (WFS1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

Denaturing high-performance liquid chromatography: A review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10215

7 January 2021

Identifiers

DOI

10.1002/HUMU.10215

1 reference

9 February 2018

PubMed ID

12754709

1 reference

9 February 2018