(Q86044369)

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Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

scientific article published on 31 December 2012

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23 February 2020

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings (English)

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23 February 2020

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Serge B. Melançon

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Serge B Melançon

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23 February 2020

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Chitra Prasad

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23 February 2020

C Anthony Rupar

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23 February 2020

Asuri N Prasad

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23 February 2020

Laura Dempsey Nunez

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23 February 2020

David S Rosenblatt

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23 February 2020

Jacek Majewski

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23 February 2020

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31 December 2012

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23 February 2020

Molecular Genetics and Metabolism

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23 February 2020

108

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23 February 2020

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23 February 2020

190-194

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23 February 2020

The biochemical basis of hereditary fructose intolerance

1 reference

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Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

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Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation

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Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

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Revisiting Mendelian disorders through exome sequencing

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Clinical and molecular features of mitochondrial DNA depletion syndromes.

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Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

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Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

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POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

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Alpers syndrome with mutations in POLG: clinical and investigative features.

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Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

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7 January 2021

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

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7 January 2021

Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.

1 reference

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7 January 2021

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans

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7 January 2021

Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.

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7 January 2021

Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.

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7 January 2021

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

1 reference

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7 January 2021

Identification of a Novel Twinkle Mutation in a Family With Infantile Onset Spinocerebellar Ataxia by Whole Exome Sequencing

1 reference

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7 January 2021

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

1 reference

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7 January 2021

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

1 reference

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7 January 2021

Identifiers

10.1016/J.YMGME.2012.12.007

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23375728%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23375728%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

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