TY  - GEN
AU  - Yamada,Y
AU  - Goto,H
AU  - Tamura,S
AU  - Ogasawara,N
TI  - Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: a point mutation at the consensus region of RNA splicing (HPRTKeio)
SN  - 0916-8478
PY  - 1994///0621
KW  - Base Sequence
KW  - DNA Primers
KW  - Female
KW  - Humans
KW  - Hypoxanthine Phosphoribosyltransferase
KW  - deficiency
KW  - Japan
KW  - Lesch-Nyhan Syndrome
KW  - ethnology
KW  - Male
KW  - Molecular Sequence Data
KW  - Point Mutation
KW  - RNA Splicing
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/BF01907988
ER  -