Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Arlene Petrosky"'
Autor:
Maria Aloya, K. Michals, Rajinder Kaul, Kuppareddi Balamurugan, Reuben Matalon, Arlene Petrosky, Guang P. Gao
Publikováno v:
Angiología. 55:34-40
Canavan disease is an autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase (ASPA). Sixty-four probands were analyzed for mutations in the ASPA gene. Three point mutations--693C-->A, 854A-->C, and 914C-->A--were identified in