(Q62723303)

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Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing

scientific article published on 16 October 2012

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17 February 2020

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing (English)

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17 February 2020

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17 February 2020

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17 February 2020

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17 February 2020

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Somayyeh Fahiminiya

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17 February 2020

Jacek Majewski

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17 February 2020

David Watkins

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17 February 2020

Jaeseung C Kim

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17 February 2020

David S Rosenblatt

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17 February 2020

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16 October 2012

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17 February 2020

Molecular Genetics and Metabolism

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17 February 2020

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17 February 2020

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17 February 2020

664-668

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17 February 2020

Inborn errors of cobalamin absorption and metabolism

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.005

7 January 2021

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.005

7 January 2021

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.005

7 January 2021

Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.005

7 January 2021

Rapid analysis of cobalamin coenzymes and related corrinoid analogs by high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.005

7 January 2021

Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.005

7 January 2021

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.005

7 January 2021

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.005

7 January 2021

The Sequence Alignment/Map format and SAMtools

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.005

7 January 2021

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.005

7 January 2021

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.005

7 January 2021

Integrative genomics viewer

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.005

7 January 2021

Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.10.005

7 January 2021

Identifiers

10.1016/J.YMGME.2012.10.005

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141461%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23141461%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

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