title: Screening of the MERTK gene for mutations in Japanese patients with autosomal recessive retinitis pigmentosa.
abstract: OBJECTIVE
  To determine whether mutations in the MERTK gene are present in Japanese patients with autosomal recessive retinitis pigmentosa (arRP).
  
  
  METHODS
  The coding sequence of all 19 exons and the adjacent flanking intron sequences of the MERTK gene were directly sequenced in 96 unrelated Japanese patients with arRP.
  
  
  RESULTS
  Seventeen sequence variants were found; six missense changes, three isocoding changes, and eight intron changes were also observed. One arRP patient had a novel homozygous Leu12Pro missense mutation in the MERTK gene.
  
  
  CONCLUSIONS
  Mutations in the MERTK gene are relatively rare in Japanese patients with arRP.
authors.affiliation: Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan. a-tada@oph.med.tohoku.ac.jp
authors.forename: Asako
authors.initials: A
authors.lastname: Tada
authors.forename: Yuko
authors.initials: Y
authors.lastname: Wada
authors.forename: Hajime
authors.initials: H
authors.lastname: Sato
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Itabashi
authors.forename: Miyuki
authors.initials: M
authors.lastname: Kawamura
authors.forename: Makoto
authors.initials: M
authors.lastname: Tamai
authors.forename: Kohji
authors.initials: K
authors.lastname: Nishida
mesh_terms: D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005787:Gene Frequency; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007438:Introns; D007930:Leucine; D009154:Mutation; D020125:Mutation, Missense; D011392:Proline; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D000076202:c-Mer Tyrosine Kinase
chemical_list: D011518:Proto-Oncogene Proteins; D011392:Proline; C097072:MERTK protein, human; D020794:Receptor Protein-Tyrosine Kinases; D000076202:c-Mer Tyrosine Kinase; D007930:Leucine