Protein structure prediction for novel mutations in Arylsulfatase-A gene
โ Scribed by Divya, M; Jain, S Jamal; Phadke, SR; Kishore, Ratna; Kamate, Mahesh; Gupta, Neerja; Dalal, Ashwin
- Book ID
- 121565613
- Publisher
- BioMed Central
- Year
- 2014
- Tongue
- English
- Weight
- 78 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1755-8166
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A male and female with juvenile metachromatic leukodystrophy (MLD) with unusual manifestations are presented, each involving a novel arylsulfatase A gene mutation. One patient demonstrated acute intermittent encephalopathic episodes for 1 year after having received the diagnosis of MLD at the age of
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