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find Keyword "染色体异常" 4 results
  • Analysis of the mutations of rhodopsin gene in autosomal dominant retinitis pigmentosa family

    Objective To detect and analyse the mutations in rhodopsin gene of members in a family affected by autosomal dominant retinitis pigmentosa (ADRP). Methods Using the polymerase chain reaction (PCR), we amplified exon 1-5 of rhodopsin gene in patients with ADRP,and analyzed it with direct sequence measuement. Results The Gly-182-Asp mutation in the rhodopsin gene was detected in most of affected members of this ADRP family, but no mutation was detected in two affected members and the control ones. Conclusion We cannot regard the Gly-182-Asp mutation in the rhodopsin gene as the pathagenic factor of the ADRP family. It is likely there is a new gene next to the rhodopsin gene. (Chin J Ocul Fundus Dis, 2002, 18: 256-258)

    Release date:2016-09-02 06:01 Export PDF Favorites Scan
  • 卵黄样黄斑营养不良同胞姐弟二例

    Release date:2016-09-02 06:05 Export PDF Favorites Scan
  • 同型胱氨酸尿症一例

    Release date:2016-09-02 06:05 Export PDF Favorites Scan
  • 胚胎固定型综合征一例

    Release date:2016-09-02 06:11 Export PDF Favorites Scan
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