IDENTIFICATION OF A GROSS DELETION MUTATION OF GLA GENE IN A FABRY DISEASE FAMILY CHARACTERIZED BY ATRIAL FIBRILLATION AND MYOCARDIAL HYPERTROPHY
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DOI: 10.1097/01.hjh.0000837768.38890.d1
Abstract: Objective: Fabry disease is a rare X-linked lysosomal storage disease caused by GLA gene mutations, which results in the deficient activity of -galactosidase A. The decreased enzymatic activity consequently leads to abnormal accumulation of the… read more here.
Keywords: myocardial hypertrophy; family; fibrillation myocardial; disease ... See more keywords