Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa

Molecular Vision

Volumn 14, Issue , 2008, Pages 262-267

  Riveiro Alvarez, Rosa ^a   Vallespin, Elena ^a   Wilke, Robert ^b   Garcia Sandoval, Blanca ^a   Cantalapiedra, Diego ^a   Aguirre Lamban, Jana ^a   Avila Fernandez, Almudena ^a   Gimenez, Ascension ^a   Trujillo Tiebas, Maria Jose ^a   Ayuso, Carmen ^a  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A4; ADENINE; ASPARAGINE; ASPARTIC ACID; CRUMBS HOMOLOG 1 PROTEIN; GUANINE; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENE SEGREGATION; HAPLOTYPE MAP; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MALE; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SPAIN; STARGARDT DISEASE;

ADOLESCENT; ADULT; AGE OF ONSET; ATP-BINDING CASSETTE TRANSPORTERS; CHROMOSOME SEGREGATION; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EYE PROTEINS; FEMALE; GENES, DOMINANT; HUMANS; MACULAR DEGENERATION; MALE; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; PEDIGREE; RETINITIS PIGMENTOSA; SPAIN;

EID: 39049130619     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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