TY  - GEN
AU  - Lin,T
AU  - Orrison,B M
AU  - Leahey,A M
AU  - Suchy,S F
AU  - Bernard,D J
AU  - Lewis,R A
AU  - Nussbaum,R L
TI  - Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome
SN  - 0002-9297
PY  - 1997///0710
KW  - Amino Acid Sequence
KW  - Cells, Cultured
KW  - Conserved Sequence
KW  - Exons
KW  - Fibroblasts
KW  - Frameshift Mutation
KW  - Golgi Apparatus
KW  - enzymology
KW  - Humans
KW  - Lymphocytes
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Oculocerebrorenal Syndrome
KW  - genetics
KW  - Phosphoric Monoester Hydrolases
KW  - chemistry
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Polymorphism, Single-Stranded Conformational
KW  - Protein Biosynthesis
KW  - Proteins
KW  - Sequence Alignment
KW  - Sequence Deletion
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/10.1086/515471
ER  -