Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

British Journal of Ophthalmology

Volumn 92, Issue 1, 2008, Pages 135-141

  Kaplan, Y ^a   Vargel, I ^b   Kansu, T ^b   Akin, B ^b   Rohmann, E ^c   Kamaci, S ^b   Uz, E ^d   Ozcelik, T ^d   Wollnik, B ^c   Akarsu, N A ^b  

^a GAZIOSMANPASA UNIVERSITY   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

^c UNIVERSITY OF COLOGNE   (Germany)

^d BILKENT UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed 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; EYE DISEASE; GENETICS; METHODOLOGY; MIDDLE AGED; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; OBESITY; PEDIGREE; X CHROMOSOME INACTIVATION;

ADULT; AGED; 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;

EID: 38349152174     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2007.128157     Document Type: Article

References (16)

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