New splicing mutations in propionic acidemia (Q47873317)

6 February 2018

title

New splicing mutations in propionic acidemia (English)

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6 February 2018

author name string

Lourdes R Desviat

1

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Sonia Clavero

2

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Celia Perez-Cerdá

3

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Rosa Navarrete

4

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Magdalena Ugarte

5

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Belen Perez

6

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publication date

19 October 2006

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6 February 2018

Journal of Human Genetics

published in

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volume

51

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issue

11

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page(s)

992-997

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Real-time reverse transcriptase-polymerase chain reaction (RT-PCR) for measurement of cytokine and growth factor mRNA expression with fluorogenic probes or SYBR Green I.

cites work

1 reference

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

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

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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

1 reference

12 December 2020

Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits

1 reference

12 December 2020

The optimization of quantitative reverse transcription PCR for verification of cDNA microarray data

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein

1 reference

12 December 2020

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

1 reference

12 December 2020

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

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12 December 2020

Splicing regulation as a potential genetic modifier

1 reference

12 December 2020

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

1 reference

12 December 2020

Splicing in action: assessing disease causing sequence changes

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12 December 2020

Deletion and insertion mutations in short tandem repeats in the coding regions of human genes

1 reference

12 December 2020

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

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12 December 2020

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

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12 December 2020

10.1007/S10038-006-0068-3

Identifiers

DOI

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6 February 2018

release_n5khfr3nnfbkjam3kf55qjd4ni

Fatcat ID

0 references

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6 February 2018