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Article

Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients.

Journal of human genetics - 1 Jan 2008

Numata Sanae, Harada Eimei, Maeno Yasuki, Ueki Isao, Watanabe Yoriko, Fujii Chieko, Yanagawa Takashi, Takenaka Satoshi, Inoue Toshiro, Inoue Shinkai, Goushi Terufumi, Yasutake Tsutomu, Mizuta Toshihiko, Yoshino Makoto

Abstract excerpt

In ten families with late-onset ornithine transcarbamylase (OTC) deficiency in male patients, three mutant alleles-R40H, R277W, and Y55D-were identified. In a total of 20 informative parent-offspring pairs, father-to-daughter transmission and mother-to-offspring transmission occurred in five (25%) and 15 (75%), respectively, indicating that paternal transmission contributes substantially to the pool of these...

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Source

Identifiers

PMID: 18030415
DOI: 10.1007/s10038-007-0212-8

Genes

OTC

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients.PMID 18030415Read ↗

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