A Four-nucleotide Insertion at the E1 Alpha Gene in a Patient with Pyruvate Dehydrogenase Deficiency

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1991 Jan 1

PMID 1779625

Citations 5

Authors

H Endo

S Miyabayashi

K Tada

K Narisawa

Affiliations

Soon will be listed here.

Citing Articles

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Patel K, OBrien T, Subramony S, Shuster J, Stacpoole P Mol Genet Metab. 2012; 106(3):385-94.

PMID: 22896851 PMC: 4003492. DOI: 10.1016/j.ymgme.2012.03.017.

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Patel K, OBrien T, Subramony S, Shuster J, Stacpoole P Mol Genet Metab. 2011; 105(1):34-43.

PMID: 22079328 PMC: 3754811. DOI: 10.1016/j.ymgme.2011.09.032.

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

Chun K, Mackay N, Federico A, Fois A, Cole D, Robertson E Am J Hum Genet. 1995; 56(3):558-69.

PMID: 7887409 PMC: 1801155.

Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

Dahl H Am J Hum Genet. 1995; 56(3):553-7.

PMID: 7887408 PMC: 1801181.

Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.

Ito M, Huq A, Naito E, Saijo T, Takeda E, Kuroda Y J Inherit Metab Dis. 1992; 15(6):848-56.

PMID: 1338114 DOI: 10.1007/BF01800220.

References

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