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ARSA wt Allele
Known as:
Arylsulfatase A wt Allele
, MLD
, Metachromatic Leucodystrophy Gene
Human ARSA wild-type allele is located in the vicinity of 22q13.33 and is approximately 3 kb in length. This allele, which encodes arylsulfatase A…
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National Institutes of Health
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Related topics
Related topics
4 relations
22q13.33
Hydrolysis
Leukodystrophy, Metachromatic
Phospholipid Metabolism
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
1999
1999
Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.
A. Marcão
,
O. Amaral
,
E. Pinto
,
R. Pinto
,
M. S. Sá Miranda
Human Mutation
1999
Corpus ID: 26687646
The mutation identification rate achieved in the study of Portuguese MLD patients was found to be extremely high (100%), thus…
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1994
1994
A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.
J. Zlotogora
,
Y. Furman-Shaharabani
,
+4 authors
D. Zlotogora
Journal of Medical Genetics
1994
Corpus ID: 489304
Metachromatic leucodystrophy is an autosomal recessive degenerative disease of the nervous system caused by the deficiency of the…
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