(Q41524427)

2 October 2017

title

The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele (English)

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2 October 2017

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T Ohura

1

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2 October 2017

M Ogasawara

2

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2 October 2017

H Ikeda

3

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2 October 2017

K Narisawa

4

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2 October 2017

K Tada

5

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2 October 2017

language of work or name

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1 October 1993

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2 October 2017

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2 October 2017

volume

92

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2 October 2017

issue

4

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2 October 2017

page(s)

397-402

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https://scigraph.springernature.com/pub.10.1007/bf01247343

2 October 2017

exact match

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cites work

Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes

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12 December 2020

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV

1 reference

12 December 2020

The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele

1 reference

12 December 2020

A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing

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12 December 2020

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

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12 December 2020

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12 December 2020

DNA sequencing with chain-terminating inhibitors

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12 December 2020

Biosynthesis and mitochondrial processing of the beta subunit of propionyl coenzyme A carboxylase from rat liver

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12 December 2020

Coding sequence of the precursor of the beta subunit of rat propionyl-CoA carboxylase

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12 December 2020

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

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12 December 2020

A catalogue of splice junction sequences

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12 December 2020

Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients

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12 December 2020

Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.

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12 December 2020

Isolation and characterization of propionyl-CoA carboxylase from normal human liver. Evidence for a protomeric tetramer of nonidentical subunits

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12 December 2020

An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia

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12 December 2020

Molecular analysis of human acatalasemia. Identification of a splicing mutation

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12 December 2020

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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12 December 2020

Two distinct mutations at the same site in the PCCB gene in propionic acidemia

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12 December 2020

Identifiers

DOI

10.1007/BF01247343

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Dimensions Publication ID

2 October 2017

1036636855

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1 reference