Specificity of PCR-SSCP for Detection of the Mutant Ornithine Transcarbamylase (OTC) Gene in Patients with OTC Deficiency

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1993 Jan 1

PMID 8295401

Citations 2

Authors

R Hoshide

T Matsuura

S Komaki

E Koike

I Ueno

I Matsuda

Affiliations

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Citing Articles

Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.

Kido J, Sugawara K, Sawada T, Matsumoto S, Nakamura K Front Genet. 2022; 13:952467.

PMID: 36303552 PMC: 9593096. DOI: 10.3389/fgene.2022.952467.

Identification of four novel splice site mutations in the ornithine transcarbamylase gene.

Oppliger Leibundgut E, Wermuth B, COLOMBO J Hum Genet. 1996; 97(2):209-13.

PMID: 8566955 DOI: 10.1007/BF02265267.

References

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