Literature DB >> 757833

An ultrastructural study in a case of Wolman's disease (clinical, biochemical, light and electron microscopic study).

Y Ozoran, A Ozoran, I Kerse, A Gürgey, S Ozsoylu, N Koçak, G Ciliv.   

Abstract

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Year:  1978        PMID： 757833

Source DB:  PubMed          Journal:  Turk J Pediatr        ISSN： 0041-4301            Impact factor:   0.552


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  1 in total

1.  A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.

Authors:  H Klima; K Ullrich; C Aslanidis; P Fehringer; K J Lackner; G Schmitz
Journal:  J Clin Invest       Date:  1993-12       Impact factor: 14.808
  1 in total

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