ABCA4 mutations in Portuguese Stargardt patients: Identification of new mutations and their phenotypic analysis

Molecular Vision

Volumn 15, Issue , 2009, Pages 584-591

  Maia Lopes, Susana ^a   Aguirre Lamban, Jana ^b   Castelo Branco, Miguel ^a   Riveiro Alvarez, Rosa ^b   Ayuso, Carmen ^b   Silva, Eduardo Duarte ^a,c  

^a UNIVERSITY OF COIMBRA   (Portugal)

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

^c CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

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

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SPLICING; ELECTROPHYSIOLOGY; EUROPE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INFANT; INTRON; MICROARRAY ANALYSIS; MISSENSE MUTATION; MUTATION RATE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPHTHALMOLOGY; PHENOTYPE; PORTUGAL; PREVALENCE; PRIORITY JOURNAL; PSYCHOPHYSICS; SEQUENCE ANALYSIS; STARGARDT DISEASE;

ADOLESCENT; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PORTUGAL;

EID: 65249086723     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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