(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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Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.009

Functional characterization of PCCA mutations causing propionic acidemia.

7 January 2021

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Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends.

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Standardizing mutation nomenclature: why bother?

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

7 January 2021

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Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides

7 January 2021

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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

7 January 2021

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MLPA and MAPH: new techniques for detection of gene deletions

7 January 2021

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7 January 2021

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Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample

7 January 2021

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Confirmation of single exon deletions in MLH1 and MSH2 using quantitative polymerase chain reaction

7 January 2021

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7 January 2021

Identifiers

DOI

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30 May 2018

release_vepb7wjoqnhsvcx3gpc3z27guu

Fatcat ID

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Fatcat

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

mapped directly with Wikidata item

24 November 2022

based on heuristic

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30 May 2018