Mutation Analysis of Indian Patients with Urea Cycle Defects.
Indian Pediatr
;
2012 July; 49(7): 585-586
Artículo
en Inglés
| 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.
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Índice:
IMSEAR (Asia Sudoriental)
Idioma:
Inglés
Revista:
Indian Pediatr
Año:
2012
Tipo del documento:
Artículo
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