High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. (Q54497933)

30 May 2018

title

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. (English)

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30 May 2018

author name string

Lourdes R Desviat

1

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30 May 2018

Rocío Sanchez-Alcudia

2

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30 May 2018

Belén Pérez

3

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30 May 2018

Celia Pérez-Cerdá

4

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30 May 2018

Rosa Navarrete

5

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30 May 2018

Raymon Vijzelaar

6

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30 May 2018

Magdalena Ugarte

7

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30 May 2018

publication date

20 January 2009

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30 May 2018

Molecular Genetics and Metabolism

published in

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30 May 2018

volume

96

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30 May 2018

issue

4

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30 May 2018

page(s)

171-176

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30 May 2018

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

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Structure of the PCCA gene and distribution of mutations causing propionic acidemia

7 January 2021

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Functional characterization of PCCA mutations causing propionic acidemia.

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Propionic acidemia: mutation update and functional and structural effects of the variant alleles

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

7 January 2021

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Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia

7 January 2021

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Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

7 January 2021

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Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA

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7 January 2021

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7 January 2021

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7 January 2021

Identifiers

DOI

1 reference

30 May 2018

release_vepb7wjoqnhsvcx3gpc3z27guu

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vepb7wjoqnhsvcx3gpc3z27guu

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

19157943

1 reference

30 May 2018