Screening of a clinically and biochemically diagnosed SOD patient using exome sequencing: a case report with a mutations/variations analysis approach
Egyptian Journal of Medical Human Genetics [The]. 2016; 17 (1): 131-136
in English
| IMEMR
| ID: emr-176225
ABSTRACT
Background:
Sulfite oxidase deficiency [SOD] is a rare neurometabolic inherited disorder causing severe delay in developmental stages and premature death. The disease follows an autosomal recessive pattern of inheritance and causes deficiency in the activity of sulfite oxidase, an enzyme that normally catalyzes conversion of sulfite to sulfate
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Sequence Analysis
/
Sulfite Oxidase
/
Exome
/
Mutation
Type of study:
Case report
/
Screening study
Limits:
Humans
/
Infant
/
Male
Language:
English
Journal:
Egypt. J. Med. Hum. Genet.
Year:
2016
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