Literature DB >> 16104184

[Neurovisceral deposits with supranuclear ophthalmoplegia of vertical movements and presence in the bone marrow of blue histiocytes or Neville's disease. Report of two cases].

G Pons, G Ponsot, B Leveque, G Lyon.   

Abstract

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Year:  1976        PMID： 16104184

Source DB:  PubMed          Journal:  Ann Pediatr (Paris)        ISSN： 0066-2097


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  1 in total

1.  Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.

Authors:  G Millat; C Marçais; M A Rafi; T Yamamoto; J A Morris; P G Pentchev; K Ohno; D A Wenger; M T Vanier
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025
  1 in total

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