2020•GeneRequires access

Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B)

Laith Naser AL-Eitan, Kifah Alqa’qa’, Wajdi Amayreh, Hanan Abdulraheem Aljamal, Rame H. Khasawneh, Batool Al-Zoubi, Israa Okour, Amany Haddad, Yazan Haddad, Hazem I. Haddad

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Key concepts: Acid sphingomyelinase, Sphingomyelin phosphodiesterase, Biology, Sphingomyelin, Niemann–Pick disease, Genotype, Gene, Genotyping

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Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B) — Research Paper | ScholarLens