Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency-Reference-Cited by-同舟云学术

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Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency

Published:2015-05-21 Issue:9 Volume:60 Page:501-507
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Choi Jin-Ho,Lee Beom Hee,Kim Ja Hye,Kim Gu-Hwan,Kim Yoo-Mi,Cho Jahyang,Cheon Chong-Kun,Ko Jung Min,Lee Jung Hyun,Yoo Han-Wook

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201554.pdf

Reference28 articles.

1. Gordon, N. Ornithine transcarbamylase deficiency: a urea cycle defect. Eur. J. Paediatr. Neurol. 7, 115–121 (2003).

2. Yamaguchi, S., Brailey, L. L., Morizono, H., Bale, A. E. & Tuchman, M. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Hum. Mutat. 27, 626–632 (2006).

3. McCullough, B. A., Yudkoff, M., Batshaw, M. L., Wilson, J. M., Raper, S. E. & Tuchman, M. Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype. Am. J. Med. Genet. 93, 313–319 (2000).

4. Kim, G. H., Choi, J. H., Lee, H. H., Park, S., Kim, S. S. & Yoo, H. W. Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro. Hum. Mutat. 27, 1159 (2006).

5. Lee, J. H., Kim, G. H., Yoo, H. W. & Cheon, C. K. OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients. Pediatr. Neurol. 51, 354–359 e351 (2014).

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4. Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China;2023-11-24

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