New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation

American Journal of Medical Genetics

Volumn 138 A, Issue 4, 2005, Pages 365-368

  Garcia Hoyos M ^a   Sanz, R ^b   Diego Alvarez D ^a   Lorda Sanchez I ^a   Trujillo Tiebas, M J ^a   Cantalapiedra, D ^a   Ramos, C ^a   Ayuso, C ^a  

^a Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^b Laboratorio de Genética   (Spain)

Author keywords

CHM gene; Choroideremia; Chromosomal breakpoint; Expression level analysis; X; 4 translocation

Indexed keywords

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADULT; ANALYTIC METHOD; ARTICLE; CASE REPORT; CHM GENE; CHOROIDEREMIA; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DISRUPTION; GENE EXPRESSION; GENE LOCATION; GENE LOCUS; HUMAN; METHYLATION; PIGMENT EPITHELIUM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DEGENERATION; X CHROMOSOME; X CHROMOSOME INACTIVATION; X CHROMOSOME RECESSIVE DISORDER;

3' UNTRANSLATED REGIONS; ADOLESCENT; CHOROIDEREMIA; CHROMOSOME FRAGILE SITES; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MIDDLE AGED; RNA, MESSENGER; TRANSLOCATION, GENETIC; X CHROMOSOME INACTIVATION;

EID: 27444443671     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30987     Document Type: Article

References (15)

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