Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females
Fabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency; in contrast to other X-linked diseases, heterozygous females can be as affected as men. The construction and analysis of a family pedigree is a powerful tool to aid clinicians in diagnosis, establishm...
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Veröffentlicht in: | Genetics and molecular research 2014-08, Vol.13 (3), p.6752-6758 |
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