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Premium Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations
Author(s)
Genet S.,
Cranston T.,
MiddletonPrice H. R.
Publication year2000
Publication title
journal of inherited metabolic disease
Resource typeJournals
PublisherKluwer Academic Publishers
Abstract The high new mutation rate and the wide spectrum of mutations found in patients with ornithine carbamoyltransferase (OCT) deficiency means that direct mutation analysis is essential for providing accurate carrier detection and prenatal diagnosis in affected families. We present our strategy for mutation detection in the OCT gene and summarize the results from 31 families with a confirmed diagnosis and 34 families with a suspected diagnosis of OCT deficiency, and describe 14 previously unreported mutations.
Subject(s)amino acid , arginine , biology , fetus , gene , gene mutation , genetic counseling , genetic testing , genetics , human genetics , medicine , mutation , mutation testing , newborn screening , ornithine , ornithine carbamoyltransferase , pregnancy , prenatal diagnosis
Language(s)English
SCImago Journal Rank1.462
H-Index102
eISSN1573-2665
pISSN0141-8955
DOI10.1023/a:1005614409241

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