Literature DB >> 7599642

Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.

K M Madsen1, L Hasholt, S A Sørensen, M L Fermér, N Dahl.   

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Year:  1995        PMID: 7599642     DOI: 10.1002/humu.1380050316

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


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  5 in total

1.  Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.

Authors:  Nikolaos Vogiatzakis; Kyriaki Kekou; Christalena Sophocleous; Sophia Kitsiou; Ariadni Mavrou; Chrisa Bakoula; Emmanouel Kanavakis
Journal:  Mol Biotechnol       Date:  2007-08-03       Impact factor: 2.695

2.  Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.

Authors:  J P Oliveira; S Ferreira; J Barceló; P Gaspar; F Carvalho; M C Sá Miranda; J-E Månsson
Journal:  J Inherit Metab Dis       Date:  2008-11-03       Impact factor: 4.982

3.  SSCP analysis of paraffin wax embedded tissues in a family with an atypical form of Fabry disease.

Authors:  K M Madsen; L Hasholt; J Berger; S A Sørensen
Journal:  Clin Mol Pathol       Date:  1996-10

4.  Structure-function relationships in alpha-galactosidase A.

Authors:  Scott C Garman
Journal:  Acta Paediatr       Date:  2007-04       Impact factor: 2.299

5.  Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.

Authors:  Nikolaos Vogiatzakis; Kyriaki Kekou; Christalena Sophocleous; Sophia Kitsiou; Ariadni Mavrou; Chrisa Bakoula; Emmanouel Kanavakis
Journal:  Mol Biotechnol       Date:  2007-08-14       Impact factor: 2.695

  5 in total

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