Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease

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http://www.wikidata.org/entity/Q35643046

description

1995 nî lūn-bûn

@nan

1995年の論文

@ja

1995年論文

@yue

1995年論文

@zh-hant

1995年論文

@zh-hk

1995年論文

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1995年論文

@zh-tw

1995年论文

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1995年论文

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1995年论文

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name

Molecular analysis of the acid ...... e form of Niemann-Pick disease

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Molecular analysis of the acid ...... e form of Niemann-Pick disease

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type

Item

label

Molecular analysis of the acid ...... e form of Niemann-Pick disease

@ast

Molecular analysis of the acid ...... e form of Niemann-Pick disease

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prefLabel

Molecular analysis of the acid ...... e form of Niemann-Pick disease

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Molecular analysis of the acid ...... e form of Niemann-Pick disease

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P1476

Molecular analysis of the acid ...... e form of Niemann-Pick disease

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P2093

K Ferlinz

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K Sandhoff

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K Suzuki

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M T Vanier

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M Weiler

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R Hurwitz

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P2860

DNA sequencing with chain-terminating inhibitors

Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)

Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease

A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate

Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts

Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms

The cerebral defect in Tay-Sachs disease and Niemann-Pick disease.

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1343-1349

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scholarly article

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English

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1995-06-01T00:00:00Z

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7762557

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P932

1801117

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