A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase β-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa

Current Eye Research

Volumn 17, Issue 3, 1998, Pages 332-335

  Saga, Masamichi ^a   Mashima, Yukihiko ^a   Akeo, Kiyoshi ^a   Kudoh, Jun ^a   Oguchi, Yoshihisa ^a   Shimizu, Nobuyoshi ^a  

^a KEIO UNIVERSITY   (Japan)

Author keywords

Autosomal recessive; Mutation; Retinitis pigmentosa; Rod cGMP phosphodiesterase

Indexed keywords

CGMP PHOSPHODIESTERASE; CYCLIC GMP; ISOLEUCINE; PHOSPHODIESTERASE; RESTRICTION ENDONUCLEASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DISORDER; CODON; CONTROLLED STUDY; ENZYME SUBUNIT; EXON; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETINA ROD; RETINITIS PIGMENTOSA; SINGLE STRAND CONFORMATION POLYMORPHISM;

3',5'-CYCLIC-GMP PHOSPHODIESTERASE; ADULT; ASPARAGINE; CODON; FUNDUS OCULI; HUMANS; ISOLEUCINE; JAPAN; MALE; MIDDLE AGED; PEDIGREE; PHOSPHORIC DIESTER HYDROLASES; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINITIS PIGMENTOSA; RODS (RETINA); VISUAL FIELDS;

EID: 0031933026     PISSN: 02713683     EISSN: None     Source Type: Journal    
DOI: 10.1076/ceyr.17.3.332.5214     Document Type: Article

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