Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder caused by mutations of the arylsulfatase A ( ARSA) gene. We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed
โฆ LIBER โฆ
ARSA Gene Mutations in Five Chinese Metachromatic Leukodystrophy Patients
โ Scribed by Jingmin Wang; Weimin Zhang; Hong Pan; Xinhua Bao; Ye Wu; Xiru Wu; Yuwu Jiang
- Book ID
- 116825138
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 550 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0887-8994
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