SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children
OBJECTIVE: Schimke immuno-osseous dysplasia (SIOD), is an autosomal recessive inherited disease caused by SMARCAL1 (MIM:20606622) mutations, while in about half of the patients no any mutation in SMARCAL1 could be found. This disease involves multiple systems and is characterized by short and dissym...
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 53(2015), 1 vom: 09. Jan., Seite 45-50 |
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| Auteur principal: | |
| Autres auteurs: | , , , , , , , |
| Format: | Article |
| Langue: | Chinese |
| Publié: |
2015
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| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Sujets: | Case Reports Journal Article SMARCAL1 protein, human EC 2.7.7.- DNA Helicases EC 3.6.4.- |