Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann-Pick Type A and B Patients
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1469-1809.2003.00009.x/fullpdf
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3. Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1→p15.4
4. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
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2. SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency;Hereditas;2023-03-13
3. SMPD1 Expression Profile and Mutation Landscape Help Decipher Genotype–Phenotype Association and Precision Diagnosis for Acid Sphingomyelinase Deficiency;2022-11-22
4. Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A;American Journal of Case Reports;2022-09-27
5. SMPD1 Expression Profile and Mutation Landscape Help Decipher Genotype–Phenotype Association and Precision Diagnosis for Niemann–Pick Disease Types A and B;2022-08-09
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