Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations

Ophthalmic Genetics

Volumn 26, Issue 4, 2005, Pages 157-161

  Pauer, Gayle J T ^a   Xi, Quansheng ^a   Zhang, Kang ^b   Traboulsi, Elias I ^a   Hagstrom, Stephanie A ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Frizzled; MFRP; Mutation; Retinal degeneration

Indexed keywords

CYSTEINE; MEMBRANE PROTEIN; MEMBRANE TYPE FRIZZLED RELATED PROTEIN; UNCLASSIFIED DRUG; WNT PROTEIN;

5' UNTRANSLATED REGION; ARTICLE; CELL DEGENERATION; DNA POLYMORPHISM; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INTRON; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOUSE; NONHUMAN; PHENOTYPE; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FAMILY; RETINA DEGENERATION; RETINITIS PIGMENTOSA; RNA SPLICING; SCREENING; SIGNAL TRANSDUCTION; STARGARDT DISEASE;

5' UNTRANSLATED REGIONS; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INTRONS; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINAL DEGENERATION;

EID: 29044443482     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810500374425     Document Type: Article

References (5)

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