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Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene

✍ Scribed by Berge, Knut Erik; Retterstøl, Kjetil; Romeo, Stefano; Pirazzi, Carlo; Leren, Trond P.


Book ID
122210633
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
523 KB
Volume
234
Category
Article
ISSN
0021-9150

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Metachromatic leukodystrophy (MLD), a lysosomal storage disease caused by the deficiency of arylsulfatase A (ASA), is inherited as an autosomal recessive trait, and its frequency is estimated to be 1 in 40,000 live births. Genomic DNA from 21 MLD patients (14 late-infantile and 7 juvenile cases) was