Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia (Q40571072)

21 September 2017

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia (English)

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21 September 2017

Xue Yang

1

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21 September 2017

Osamu Sakamoto

2

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21 September 2017

Yoichi Matsubara

3

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21 September 2017

Shigeo Kure

4

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21 September 2017

Yoichi Suzuki

5

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21 September 2017

Yoko Aoki

6

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21 September 2017

Seiji Yamaguchi

7

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21 September 2017

Yukihiro Takahashi

8

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21 September 2017

Toshiya Nishikubo

9

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21 September 2017

Chiharu Kawaguchi

10

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21 September 2017

Akira Yoshioka

11

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21 September 2017

Toshiyuki Kimura

12

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21 September 2017

Kiyoshi Hayasaka

13

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21 September 2017

Yoshinori Kohno

14

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21 September 2017

Kazuie Iinuma

15

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21 September 2017

Toshihiro Ohura

16

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21 September 2017

language of work or name

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1 April 2004

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Molecular Genetics and Metabolism

21 September 2017

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21 September 2017

81

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21 September 2017

4

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21 September 2017

335-342

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

21 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

Neurologic nonmetabolic presentation of propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

Overview of mutations in thePCCA andPCCB genes causing propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

Molecular analysis of PCCB gene in Korean patients with propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

Mutation analysis of the propionyl-CoA carboxylase alpha-subunit gene in four Japanese patients with propionic acidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

An 84 bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

Functional characterization of PCCA mutations causing propionic acidemia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

New frequent mutation in the PCCB gene in Spanish propionic acidemia patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.01.003

10.1016/J.YMGME.2004.01.003

7 January 2021

Identifiers

DOI

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release_s24vzcqlhvcmljtze64wv56wzm

21 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/s24vzcqlhvcmljtze64wv56wzm

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference