Mutation Analysis of Indian Patients with Urea Cycle Defects.
Indian Pediatr
;
2012 July; 49(7): 585-586
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2012
Tipo de documento:
Artigo
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