Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
about
Identification and biochemical characterization of an acid sphingomyelinase-like protein from the bacterial plant pathogen Ralstonia solanacearum that hydrolyzes ATP to AMP but not sphingomyelin to ceramideIdentification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick diseaseIdentification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patientsIdentification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.
P2860
Q28542500-F9EF576B-EDC8-419F-8106-2531C4EAC21FQ33959189-D56433D5-65CD-4213-B286-BFB7ABD927E1Q36594529-B95D4FD0-4551-4771-B0DB-EC6C24B397DEQ37661496-04A9D634-F071-4DA8-AB79-55960B24D4C8Q38615943-00E69B92-B5BE-4F14-97C9-ED2DB1DE5EC7Q41837986-B3A79A5D-14EB-4812-8EDE-D9C9E6EC09B9Q42581325-E3759922-7876-43D1-BFEC-6F37E3485849Q50498665-2F530BD5-3E25-4DFC-9C7E-844192ADE51A
P2860
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年學術文章
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name
Screening of 25 Italian patien ...... nd thirteen private, in SMPD1.
@en
type
label
Screening of 25 Italian patien ...... nd thirteen private, in SMPD1.
@en
prefLabel
Screening of 25 Italian patien ...... nd thirteen private, in SMPD1.
@en
P2093
P356
P1433
P1476
Screening of 25 Italian patien ...... nd thirteen private, in SMPD1.
@en
P2093
Biancheri R
Corsolini F
Di Rocco M
Filocamo M
Mazzotti R
Stroppiano M
P356
10.1002/HUMU.9258
P577
2004-07-01T00:00:00Z