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
✦ LIBER ✦
Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the β-globin gene
✍ Scribed by Catherine Badens; Isabelle Thuret; Gérard Michel; Mickaël Krawczak; Jean-François Mattei; Danielle Lena-Russo; Dominique Labie; Jacques Elion
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 413 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1059-7794
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