Literature DB >> 10466427

Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin.

O Amaral, L Lacerda, A Marcão, E Pinto, G Tamagnini, M C Sá Miranda.   

Abstract

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Year:  1999        PMID： 10466427     DOI： 10.1034/j.1399-0004.1999.560117.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Authors:  V Koprivica; D L Stone; J K Park; M Callahan; A Frisch; I J Cohen; N Tayebi; E Sidransky
Journal:  Am J Hum Genet       Date:  2000-05-04       Impact factor: 11.025

2.  Homozygous N396T mutation in Gaucher disease: Portuguese sisters with markedly different phenotypes.

Authors:  Samantha Kimball; Francis Choy; Agnes Zay; Dominick Amato
Journal:  Int Med Case Rep J       Date:  2011-03-16
  2 in total

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