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Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B).
Gene. 2020 Jul 15;747:144683. doi: 10.1016/j.gene.2020.144683. Epub 2020 Apr 18.
Gene. 2020.
PMID: 32311413
Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.
Al-Eitan LN, Alqa'qa' K, Amayreh W, Khasawneh R, Aljamal H, Al-Abed M, Haddad Y, Rawashdeh T, Jaradat Z, Haddad H.
Al-Eitan LN, et al. Among authors: alqa qa k.
J Pers Med. 2020 Jan 21;10(1):4. doi: 10.3390/jpm10010004.
J Pers Med. 2020.
PMID: 31973013
Free PMC article.
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