(Q45885764)

17 December 2017

title

UMD (Universal Mutation Database): 2005 update (English)

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17 December 2017

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5

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17 December 2017

Christophe Beroud

Christophe Béroud

1

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Catherine Boileau

Catherine Boileau

4

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Mireille Claustres

6

Mireille Claustres

1 reference

PubMed ID

16086365

17 December 2017

Gwenaëlle Collod-Béroud

Gwenaëlle Collod-Béroud

3

1 reference

17 December 2017

Dalil Hamroun

2

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17 December 2017

publication date

1 September 2005

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17 December 2017

published in

Human Mutation

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17 December 2017

volume

26

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17 December 2017

page(s)

184-191

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17 December 2017

issue

3

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17 December 2017

Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense

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The Human Genome Project in retrospect

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Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

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8th International HUGO-Mutation Database Initiative Meeting, April 9, 2000, Vancouver, Canada

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p53 gene mutation: software and database.

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UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

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Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

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7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

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Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases

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7 January 2021

Marfan Database (third edition): new mutations and new routines for the software

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7 January 2021

Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue

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7 January 2021

The HUGO Mutation Database Initiative

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Suppression of revertant fibers in mdx mice by expression of a functional dystrophin.

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Nomenclature for the description of human sequence variations.

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Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

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Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC

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Recoding: reprogrammed genetic decoding

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Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping

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7 January 2021

A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations

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7 January 2021

The challenge of documenting mutation across the genome: the human genome variation society approach

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7 January 2021

Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy

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7 January 2021

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

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7 January 2021

Novel therapies for Duchenne muscular dystrophy

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7 January 2021

Pharmacologic therapy for stop mutations: how much CFTR activity is enough?

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7 January 2021

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation

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7 January 2021

Reprogrammed genetic decoding in cellular gene expression.

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7 January 2021

A new type of mutation causes a splicing defect in ATM.

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7 January 2021

PAHdb 2003: what a locus-specific knowledgebase can do.

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7 January 2021

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

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7 January 2021

Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis

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7 January 2021

Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations

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7 January 2021

Human Gene Mutation Database (HGMD): 2003 update.

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7 January 2021

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

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7 January 2021

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.

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7 January 2021

A point mutation in the human estrogen receptor gene is associated with the expression of an abnormal estrogen receptor mRNA containing a 69 novel nucleotide insertion

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7 January 2021

Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid

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7 January 2021

Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations

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7 January 2021

Dystrophin gene transcripts skipping the mdx mutation

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20210

1 reference

17 December 2017

PubMed ID

16086365

1 reference

17 December 2017