Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.

Lin, T

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. [electronic resource] - American journal of human genetics Jun 1997 - 1384-8 p. digital

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

0002-9297

10.1086/515471 doi


Amino Acid Sequence
Cells, Cultured
Conserved Sequence
Exons
Fibroblasts
Frameshift Mutation
Golgi Apparatus--enzymology
Humans
Lymphocytes
Male
Molecular Sequence Data
Mutation
Oculocerebrorenal Syndrome--genetics
Phosphoric Monoester Hydrolases--chemistry
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Protein Biosynthesis
Proteins--chemistry
Sequence Alignment
Sequence Deletion