Molecular analysis of PCCB gene in Korean patients with propionic acidemia (Q44200199)

30 November 2017

title

Molecular analysis of PCCB gene in Korean patients with propionic acidemia (English)

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30 November 2017

Soon Nam Kim

1

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30 November 2017

Kyung Hwa Ryu

2

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30 November 2017

Eun Ha Lee

3

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30 November 2017

Jong Soo Kim

4

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30 November 2017

Si Houn Hahn

5

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30 November 2017

publication date

1 November 2002

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Molecular Genetics and Metabolism

30 November 2017

published in

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30 November 2017

volume

77

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30 November 2017

issue

3

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30 November 2017

page(s)

209-216

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Inherited propionyl-CoA carboxylase deficiency in “ketotic hyperglycinemia”

30 November 2017

cites work

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Overview of mutations in thePCCA andPCCB genes causing propionic acidemia

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7 January 2021

A routine method for the establishment of permanent growing lymphoblastoid cell lines

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Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample

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7 January 2021

Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene

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7 January 2021

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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7 January 2021

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

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7 January 2021

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

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7 January 2021

Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs

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7 January 2021

Propionic acidemia: a clinical update

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7 January 2021

Clinical outcome and long-term management of 17 patients with propionic acidaemia.

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7 January 2021

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

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7 January 2021

Chaperonin-mediated assembly of wild-type and mutant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli

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7 January 2021

Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli

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7 January 2021

Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase

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7 January 2021

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

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7 January 2021

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

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7 January 2021

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

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7 January 2021

Neurologic outcome of propionic acidemia

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7 January 2021

Acute basal ganglia infarction in propionic acidemia

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7 January 2021

10.1016/S1096-7192(02)00139-7

Identifiers

DOI

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30 November 2017

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