Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene
Date
2008
Authors
Kaplan, Y.
Vargel, I.
Kansu, T.
Akin, B.
Rohmann, E.
Kamaci, S.
Uz, E.
Ozcelik, T.
Wollnik, B.
Akarsu, N. A.
Editor(s)
Advisor
Supervisor
Co-Advisor
Co-Supervisor
Instructor
Citation Stats
Series
Abstract
Source Title
British Journal of Ophthalmology
Publisher
BMJ Group
Course
Other identifiers
Book Title
Keywords
Amino acid, Arginine, Glycine, Cytoskeleton protein, FRMD7 protein, human, Membrane protein, Unclassified drug, Article, Congenital nystagmus, DNA methylation, Exon, Family, Female, Gene activation, Gene locus, Gene mutation, Gene sequence, Genetic linkage, Heterozygosity, Homozygosity, Human, Intron, Major clinical study, Male, Missense mutation, Phenotype, Polymerase chain reaction, Priority journal, Substitution reaction, X chromosome, X chromosome linked disorder, Adult, Aged, Congenital nystagmus, Eye disease, Genetics, Methodology, Middle aged, Non insulin dependent diabetes mellitus, Nucleotide sequence, Obesity, Pedigree, X chromosome inactivation, X chromosome linked disorder, Base Sequence, Cytoskeletal Proteins, Diabetes Mellitus, Type 2, DNA Mutational Analysis, Eye Diseases, Hereditary, Female, Genetic Diseases, X-Linked, Humans, Linkage (Genetics), Male, Membrane Proteins, Middle Aged, Mutation, Missense, Nystagmus, Congenital, Obesity, Pedigree, X Chromosome Inactivation
Degree Discipline
Degree Level
Degree Name
Citation
Permalink
Published Version (Please cite this version)
Language
English