Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease

Molecular Vision

Volumn 13, Issue , 2007, Pages 96-101

  Riveiro Alvarez, R ^a   Valverde, D ^a   Lorda Sanchez, I ^a   Trujillo Tiebas, M J ^a   Cantalapiedra, D ^a   Vallespin, E ^a   Aguirre Lamban, J ^a   Ramos, C ^a   Ayuso, C ^a  

^a Hospital UniversitarioFundación Jiménez Díaz   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A4; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 1; CHROMOSOME IDENTIFICATION; CLINICAL FEATURE; COLOR VISION DEFECT; CONTROLLED STUDY; CYTOGENETICS; DISEASE COURSE; DISEASE TRANSMISSION; DNA DETERMINATION; DNA MICROARRAY; EXON; FEMALE; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HOMOZYGOSITY; HUMAN; KARYOTYPE; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OPHTHALMOSCOPY; PHOTOPHOBIA; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STARGARDT DISEASE; STRABISMUS; UNIPARENTAL DISOMY; VISUAL ACUITY; VISUAL IMPAIRMENT;

ADULT; ALLELES; ARGININE; ATP-BINDING CASSETTE TRANSPORTERS; CHROMOSOMES, HUMAN, PAIR 1; CYTOGENETIC ANALYSIS; FATHERS; FEMALE; GENE DOSAGE; HAPLOTYPES; HETEROZYGOTE; HUMANS; KARYOTYPING; LEUCINE; MACULAR DEGENERATION; MALE; MICROSATELLITE REPEATS; MUTATION; UNIPARENTAL DISOMY;

EID: 33846552410     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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