Identification of mutation in the ?-L-iduronidase gene (IDUA) in Hurler syndromes in Chinese populations / 中国病理生理杂志
Chinese Journal of Pathophysiology
;
(12)1999.
Artículo
en Chino
| WPRIM
| ID: wpr-525763
ABSTRACT
AIM:
To investigate the mutation type in the IDUA gene of Liaoning district mucopolysaccharidosis I (MPS-I) patients.METHODS:
The mutation type and polymorphism site in the IDUA gene of Liaoning district MPS-I patients were detected by PCR-RFLP, SSCP and DNA sequencing.RESULTS:
① There is a new mutation (1278-g-a) in the IDUA gene of Liaoning district MPS-I patients. ② There is no the common mutation (W402X and Q70X) of European patients and the common mutation (R89Q) of Japanese patients in the 10 families we studied.CONCLUSION:
The mutation type in the IDUA gene of Liaoning district MPS-I patients is different from that of other countries and districts.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio diagnóstico
Idioma:
Chino
Revista:
Chinese Journal of Pathophysiology
Año:
1999
Tipo del documento:
Artículo
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