Identification of a Novel ARSA Gene Mutation Through High-Throughput Molecular Diagnosis Method in Two Girls with Late Infantile Metachromatic Leukodystrophy

Identification of a Novel ARSA Gene Mutation Through High-Throughput Molecular Diagnosis Method in Two Girls with Late Infantile Metachromatic Leukodystrophy

Medicine, Medical Laboratory Science, Neurology, Life Sciences, Biochemistry, Genetics,
Metachromatic Leukodystrophy   MLD   Arylsulfatase A   ARSA   Whole Exome Sequencing   Novel Mutation  

Neuromolecular Medical Research on Hereditary Leukodystrophy - A Research Report on the Discovery of a Novel ARSA Gene Mutation Research Background Hereditary leukodystrophies are a group of genetic disorders primarily affecting the white matter of the central nervous system. They encompass a wide range of conditions, mainly caused by enzyme defici...