Progress in molecular genetics in autoimmune polyendocrinopathy syndrome type Ⅰ / 国际儿科学杂志
International Journal of Pediatrics
; (6): 45-48, 2010.
Article
de Zh
| WPRIM
| ID: wpr-390672
Bibliothèque responsable:
WPRO
ABSTRACT
Autoimmune polyendocrinopathy syndrome type Ⅰ( APS-Ⅰ) is a rare autosomal recessive disorder caused by mutations in autoimmune regulator gene( AIRE) . A number of mutations have been described in the AIRE gene of patients with APS-Ⅰ, including nonsense mutation, missense mutation, silent mutation, splice site mutation, insertions and deletions mutation, et al. The mutation characteristics of the APS-Ⅰ pathogenic gene have been reviewed in the article.
Texte intégral:
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Indice:
WPRIM
langue:
Zh
Texte intégral:
International Journal of Pediatrics
Année:
2010
Type:
Article