SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants-Reference-Cited by-同舟云学术

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

Published:2015-12-01 Issue:2 Volume:37 Page:139-147
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zampieri Stefania¹,Filocamo Mirella²,Pianta Annalisa¹,Lualdi Susanna²,Gort Laura³,Coll Maria Jose³,Sinnott Richard⁴,Geberhiwot Tarekegn⁵,Bembi Bruno¹,Dardis Andrea¹

Affiliation:

1. Regional Coordinator Centre for Rare Diseases; University Hospital Santa Maria della Misericordia; Udine Italy

2. Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche; Istituto G. Gaslini; Genova Italy

3. Sección Errores Congénitos del Metabolismo-IBC; Serv Bioquímica y Genética Molecular; Hospital Clínic; IDIBAPS; CIBERER; Barcelona Spain

4. Department of Computing and Information Systems; University of Melbourne; Melbourne Australia

5. University of Birmingham and Queen Elizabeth Hospital; Birmingham UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference78 articles.

1. Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B;Acuna;Eur J Hum Genet,2015

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

3. R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease;Aneja;BMJ Case Rep 27,2012

4. Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation;Aykut;Gene,2013

5. A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization;Cho;Korean J Lab Med,2009

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