Wang, A M

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. [electronic resource] - The Journal of clinical investigation Nov 1990 - 1752-6 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0021-9738

10.1172/JCI114901 doi


Base Sequence
Blotting, Northern
Blotting, Southern
Cell Line
Genes, Recessive
Hexosaminidases--deficiency
Homozygote
Humans
Male
Molecular Sequence Data
Mutation
Nervous System Diseases--enzymology
Polymerase Chain Reaction
alpha-N-Acetylgalactosaminidase