(Q40571072)

21 September 2017

title

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

1 reference

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

1 reference

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

1 reference

21 September 2017

Toshiyuki Kimura

12

1 reference

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

1 reference

1 April 2004

1 reference

Molecular Genetics and Metabolism

21 September 2017

published in

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21 September 2017

volume

81

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21 September 2017

issue

4

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21 September 2017

page(s)

335-342

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

21 September 2017

cites work

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

1 reference

release_s24vzcqlhvcmljtze64wv56wzm

21 September 2017

Fatcat ID

1 reference

Fatcat

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

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference