Confirm polymorphisms in exon 18 of Wilson disease gene in Chinese / 中国神经精神疾病杂志
Chinese Journal of Nervous and Mental Diseases
;
(12): 86-88, 2001.
Artigo
em Chinês
| WPRIM
| ID: wpr-411417
ABSTRACT
Objective To screen for gene mutation of exon 18 in Chinese patients with Wilson disease. Methods PCR-SSCP was used to screen exon 18 in 45 Wilson disease patients among 39 Chinese families and 10 normal controls. Those with abnormality were further analyzed by necleotide sequence analysis. Results There were 16 mobility shift with two different styles in exon 18. All abnormal mobility shifts were sequence analysed. No gene mutation was found. Conclusions Our result suggest that, contrary to findings in Caucasians, exon 18 is not a frequent mutation point in Chinese patients with Wilson disease.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Nervous and Mental Diseases
Ano de publicação:
2001
Tipo de documento:
Artigo
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