TY  - GEN
AU  - Wang,A M
AU  - Schindler,D
AU  - Desnick,R
TI  - Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy
SN  - 0021-9738
PY  - 1990///1228
KW  - Base Sequence
KW  - Blotting, Northern
KW  - Blotting, Southern
KW  - Cell Line
KW  - Genes, Recessive
KW  - Hexosaminidases
KW  - deficiency
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Nervous System Diseases
KW  - enzymology
KW  - Polymerase Chain Reaction
KW  - alpha-N-Acetylgalactosaminidase
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1172/JCI114901
ER  -