Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa (Q34088214)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20011630%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa (English)

1 reference

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15 January 2020

1 reference

3

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15 January 2020

Carlo Rivolta

7

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15 January 2020

author name string

Thomas Rio Frio

1

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15 January 2020

Sylwia Panek

2

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15 January 2020

Silvio Alessandro Di Gioia

4

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15 January 2020

Arun Kumar

5

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15 January 2020

Andreas Gal

6

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15 January 2020

publication date

8 December 2009

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15 January 2020

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15 January 2020

volume

15

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15 January 2020

page(s)

2627-2633

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describes a project that uses

15 January 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2790479/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

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Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms

5 July 2018

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5 July 2018

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Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle

5 July 2018

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5 July 2018

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5 July 2018

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Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy

5 July 2018

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L-2-hydroxyglutaric aciduria, a defect of metabolite repair

5 July 2018

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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

5 July 2018

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Whole-genome patterns of common DNA variation in three human populations

5 July 2018

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Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

5 July 2018

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5 July 2018

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Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790479

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5 July 2018

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5 July 2018

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5 July 2018

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Confirmation of linkage and refinement of the RP28 locus for autosomal recessive retinitis pigmentosa on chromosome 2p14-p15 in an Indian family.

5 July 2018

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Deficiencies in sight with the candidate gene approach

28 October 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/20011630

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20011630%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference