(Q44965124)

7 December 2017

Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes (English)

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7 December 2017

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Sonia Clavero

1

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7 December 2017

Belén Pérez

2

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7 December 2017

Ana Rincón

3

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7 December 2017

Magdalena Ugarte

4

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7 December 2017

Lourdes R Desviat

5

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7 December 2017

2 July 2004

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7 December 2017

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7 December 2017

115

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7 December 2017

3

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7 December 2017

239-247

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https://scigraph.springernature.com/pub.10.1007/s00439-004-1147-1

7 December 2017

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cites work

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

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12 December 2020

Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations

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12 December 2020

Correction of disease-associated exon skipping by synthetic exon-specific activators

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12 December 2020

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

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12 December 2020

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients

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12 December 2020

Nonsense-mediated mRNA decay in health and disease

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12 December 2020

Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.

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12 December 2020

Splicing regulation as a potential genetic modifier

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12 December 2020

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

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12 December 2020

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12 December 2020

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

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12 December 2020

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

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12 December 2020

Listening to silence and understanding nonsense: exonic mutations that affect splicing

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12 December 2020

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients

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12 December 2020

A second leaky splice-site mutation in the spastin gene

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12 December 2020

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

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12 December 2020

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

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12 December 2020

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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12 December 2020

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.

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12 December 2020

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia

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12 December 2020

Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene

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12 December 2020

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

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12 December 2020

Functional characterization of PCCA mutations causing propionic acidemia.

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12 December 2020

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

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12 December 2020

Human Gene Mutation Database (HGMD): 2003 update

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12 December 2020

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.

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12 December 2020

Sequence requirements for the biotinylation of carboxyl-terminal fragments of human propionyl-CoA carboxylase alpha subunit expressed in Escherichia coli

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12 December 2020

Mutations associated with variant phenotypes in ataxia-telangiectasia

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12 December 2020

10.1007/S00439-004-1147-1

Identifiers

DOI

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7 December 2017

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