Screening of a clinically and biochemically diagnosed SOD patient using exome sequencing: A case report with a mutations/variations analysis approach-Reference-Cited by-同舟云学术

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Screening of a clinically and biochemically diagnosed SOD patient using exome sequencing: A case report with a mutations/variations analysis approach

Published:2016-01 Issue:1 Volume:17 Page:131-136
ISSN:1110-8630
Container-title:Egyptian Journal of Medical Human Genetics
language:en
Short-container-title:Egyptian Journal of Medical Human Genetics

Author:

Aghanoori Mohamad-Reza,Shahriary Ghazaleh Mohammadzadeh,Safarpour Mahdi,Ebrahimi Ahmad

Funder

Shahid Beheshti University of Medical Sciences

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical)

Reference21 articles.

1. Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature;Tan;Pediatrics,2005

2. Isolated sulfite oxidase deficiency-review of two cases in one family;Edwards;Ophthalmology,1999

3. Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients;Johnson;Hum Mutat,2002

4. Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis;Johnson;Prenat Diagn,2002

5. Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase;Kisker;Cell,1997

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