ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation

Experimental Eye Research

Volumn 109, Issue , 2013, Pages 77-82

  Chacón Camacho, Oscar F ^a   Granillo Alvarez, Mariella ^b   Ayala Ramírez, Raul ^a   Zenteno, Juan C ^a,c  

^a Institute of Ophthalmology   (Mexico)

^b INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^c UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

Author keywords

ABCA4 gene; Founder effect; Macular degeneration; Retinal dystrophy; Stargardt disease

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A4; GENOMIC DNA; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COHORT ANALYSIS; ELECTRORETINOGRAPHY; EXON; EYE FUNDUS; EYE PHOTOGRAPHY; FLUORESCENCE ANGIOGRAPHY; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; MEXICO; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; SLIT LAMP; STARGARDT DISEASE; VISUAL ACUITY; VISUAL FIELD;

ADOLESCENT; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MACULAR DEGENERATION; MALE; MEXICO; POINT MUTATION; RETINAL DYSTROPHIES; YOUNG ADULT;

EID: 84875246289     PISSN: 00144835     EISSN: 10960007     Source Type: Journal    
DOI: 10.1016/j.exer.2013.02.006     Document Type: Article

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