(Q28274254)

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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

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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 (English)

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3

R J Desnick

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Edward H Schuchman

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5

object named as

E H Schuchman

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author name string

T Takahashi

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1

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M Suchi

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2

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G Takada

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4

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language of work or name

English

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publication date

25 June 1992

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published in

Journal of Biological Chemistry

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volume

267

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issue

18

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page(s)

12552-8

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PubMed publication ID

1618760

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(Q28274254)

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

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