Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B)
GENE
AL-EITAN, L.; ALQA´QA, K.; AMAYREH, W.; ALJAMAL, H.; KHASAWNEH, R.; AL-ZOUBI, B.; OKOUR, I.; HADDAD, A.; HADDAD, Y.; HADDAD, H., 2020: Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B). GENE 747, p. 1 - 8, doi: 10.1016/j.gene.2020.144683; FULL TEXT
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