Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: Identification of novel mutations

European Journal of Ophthalmology

Volumn 17, Issue 5, 2007, Pages 749-754

  Stenirri, S ^a   Battistella, S ^a   Soriani, N ^a   Bernal, S ^b   Baiget, M ^b   Ferrari, M ^a,c,d   Cremonesi, Laura ^a  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b Hospital Sant Pau   (Spain)

^c Diagnostica e Ricerca San Raffaele   (Italy)

^d VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

ABCA4 gene; Autosomal recessive retinitis pigmentosa; DHPLC; Mutational scanning; Recessive Stargardt disease

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A4; UNCLASSIFIED DRUG; ABCA4 PROTEIN, HUMAN; DNA;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; RACE DIFFERENCE; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; STARGARDT DISEASE; GENETICS; INCIDENCE; MUTATION; POLYMERASE CHAIN REACTION; RETINA MACULA DEGENERATION; RETINA ROD OUTER SEGMENT;

ATP-BINDING CASSETTE TRANSPORTERS; DNA; EXONS; HUMANS; INCIDENCE; MACULAR DEGENERATION; MUTATION; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; ROD OUTER SEGMENTS; SPAIN;

EID: 38049006003     PISSN: 11206721     EISSN: None     Source Type: Journal    
DOI: 10.1177/112067210701700510     Document Type: Article

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