SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
about
Convert your favorite protein modeling program into a mutation predictor: "MODICT"Structural Basis for Nucleotide Hydrolysis by the Acid Sphingomyelinase-like Phosphodiesterase SMPDL3A.Crystal structure of mammalian acid sphingomyelinaseDisease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease.Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity.Types A and B Niemann-Pick disease.Two Siblings With Interstitial Lung DiseaseDeep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann-Pick disease type A: a case report
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P2860
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
description
2015 nî lūn-bûn
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2015年学术文章
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name
SMPD1 Mutation Update: Databas ...... Published and Novel Variants.
@en
type
label
SMPD1 Mutation Update: Databas ...... Published and Novel Variants.
@en
prefLabel
SMPD1 Mutation Update: Databas ...... Published and Novel Variants.
@en
P2093
P2860
P50
P356
P1433
P1476
SMPD1 Mutation Update: Databas ...... Published and Novel Variants.
@en
P2093
Andrea Dardis
Annalisa Pianta
Bruno Bembi
Maria Jose Coll
Mirella Filocamo
Susanna Lualdi
Tarekegn Geberhiwot
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P304
P356
10.1002/HUMU.22923
P577
2015-10-26T00:00:00Z