Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.
Satre, V
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. [electronic resource] - American journal of human genetics Jul 1999 - 68-76 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0002-9297
10.1086/302443 doi
Amino Acid Sequence
Female
Genetic Testing
Haplotypes
Heterozygote
Humans
Male
Microsatellite Repeats
Models, Genetic
Molecular Sequence Data
Mosaicism
Mutation
Oculocerebrorenal Syndrome--genetics
Pedigree
Phosphoric Monoester Hydrolases
Proteins--genetics
Sequence Homology, Amino Acid
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. [electronic resource] - American journal of human genetics Jul 1999 - 68-76 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0002-9297
10.1086/302443 doi
Amino Acid Sequence
Female
Genetic Testing
Haplotypes
Heterozygote
Humans
Male
Microsatellite Repeats
Models, Genetic
Molecular Sequence Data
Mosaicism
Mutation
Oculocerebrorenal Syndrome--genetics
Pedigree
Phosphoric Monoester Hydrolases
Proteins--genetics
Sequence Homology, Amino Acid