Mutation Analysis of Indian Patients with Urea Cycle Defects.
Indian Pediatr
;
2012 July; 49(7): 585-586
Article
in English
| IMSEAR
| ID: sea-169409
ABSTRACT
Molecular testing for a specific metabolic disorder remains the gold standard due to its high specificity and sensitivity and possibility of accurate prenatal diagnosis. We report four cases of urea cycle defect where mutational analysis of the involved genes was performed and subsequently, prenatal diagnosis could be offered to one of the family.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Language:
English
Journal:
Indian Pediatr
Year:
2012
Type:
Article
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