Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 616-619, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-771954
ABSTRACT
OBJECTIVE@#To identify mutation of the PAX6 gene in a patient with congenital aniridia.@*METHODS@#DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing.@*RESULTS@#The proband was found to harbor a heterozygous c.239T>A (p.Ile80Asn) mutation of the PAX6 gene. The same mutation was not found in his parents and 150 healthy controls.@*CONCLUSION@#A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Secuencia de Bases
/
Aniridia
/
Factor de Transcripción PAX6
/
Genética
/
Mutación
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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