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Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations

✍ Scribed by EM Fernandez-Valero; A Ballart; C Iturriaga; M Lluch; J Macias; MT Vanier; M Pineda; MJ Coll


Book ID
110888076
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
129 KB
Volume
68
Category
Article
ISSN
0009-9163

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Arylsulfatase A (ARSA) deficiency is the main cause of metachromatic leukodystrophy (MLD), a lysosomal disorder with no specific treatment. In view of the importance of genetic counseling, analyses of mutations and polymorphisms, including the ARSA pseudodeficiency allele, were carried out in 18 unr