Article
Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
Molecular genetics and metabolism - 1 Nov 2003
Olkhovich Natalia V, Takamura Noboru, Pichkur Natalia A, Gorovenko Natalia G, Aoyagi Kiyoshi, Yamashita Shunichi
Abstract excerpt
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA) or saposin B. The majority of mutations identified in patients with MLD are unique within individual families. Here, we report on the novel missense mutations (F247S, D381E, and A469G) and the known mutations "A" allele and P136S in the ARSA gene in three unrelated Ukrainian families with MLD. The...
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