Associated Papers
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R et al.
Hereditas, 2023
36907956 (PubMed )
Supplement: 41065_2023_272_MOESM1_ESM.xlsx › Sheet1
Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses.
Ding Y et al.
European Journal of Medical Genetics, 2016
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
Pittis MG et al.
Human Mutation, 2004
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
Ricci V et al.
Human Mutation, 2004
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