Literature DB >> 19322674

Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease.

M A Torralba, J I Pérez-Calvo.   

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Year:  2009        PMID： 19322674     DOI： 10.1007/s10545-009-1114-z

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients.

Authors:  M A Torralba; P Alfonso; J I Pérez-Calvo; A Cenarro; G M Pastores; P Giraldo; F Civeira; M Pocoví
Journal:  Blood Cells Mol Dis       Date:  2002 Jul-Aug       Impact factor: 3.039

2.  Identification of six new Gaucher disease mutations.

Authors:  E Beutler; T Gelbart; C West
Journal:  Genomics       Date:  1993-01       Impact factor: 5.736

3.  Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.

Authors:  E Beutler; T Gelbart
Journal:  Hum Mutat       Date:  1994       Impact factor: 4.878

4.  Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.

Authors:  C Fairley; A Zimran; M Phillips; M Cizmarik; J Yee; N Weinreb; S Packman
Journal:  J Inherit Metab Dis       Date:  2008-11-03       Impact factor: 4.982
  4 in total

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