Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 19-22, 2003.
Article
in Chinese
| WPRIM
| ID: wpr-248510
ABSTRACT
<p><b>OBJECTIVE</b>To determine the molecular basis of late onset ornithine transcarbamylase (OTC) deficiency in a Chinese family of Han nationality and the exon sequences of OTC gene of this patient.</p><p><b>METHODS</b>Polymerase chain reaction-single strand conformation polymorphism and direct sequencing were used to identify the mutation type.</p><p><b>RESULTS</b>A missense mutation E122G in the conserved residue of exon 4 was identified which is unreported before.</p><p><b>CONCLUSION</b>The E122G mutation in human OTC gene may cause late onset OTC deficiency.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Ornithine Carbamoyltransferase
/
Pathology
/
Pedigree
/
DNA
/
DNA Mutational Analysis
/
Base Sequence
/
Models, Molecular
/
Chemistry
/
Family Health
/
Protein Structure, Secondary
Type of study:
Prognostic study
Limits:
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2003
Type:
Article
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