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