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Arylsulfatase E is a member of the sulfatase family.
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Data indicate that the neonatal detection test sensitivity obtained was 95% with a positive predictive value of 1 in the analyses for both the arylsulfatase E (ARSE) and melanoma antigen family H1 (MAGEH1 (zeige MAGEH1 Antikörper)) genes.
Results show that Around 40 perdcent of male patients with brachytelephalangic chondrodysplasia (zeige COL11A1 Antikörper) punctata do not have detectable ARSE mutations or known maternal etiological factors.
Clinical and molecular analysis of ARSE in CDPX1 patients supports heterogeneity for CDPX1-like phenotypes and sorting these out will help to define the biological pathway and genetic contributors. [ARSE]
Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene.
, chondrodysplasia punctata 1