Zobrazeno 1 - 3
of 3
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
Publikováno v:
Electrophoresis; Jul2012, Vol. 33 Issue 12, p1736-1745, 11p
Autor:
Kaul, Rajinder, Gao, Guang P., Michals, Kimberlee, Whelan, Donald T., Levin, Simon, Matalon, Reuben
Publikováno v:
Human Mutation; 1995, Vol. 5 Issue 3, p269-271, 3p