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Methods of treating short stature disorders related to the short stature homeobox-containing (shox) gene

机译:治疗与身材矮小同源盒(shox)基因有关的身材矮小疾病的方法

摘要

The invention relates to methods and articles of manufacture for treating short stature disorders related to the Short Stature Homeobox-containing (SHOX) gene which, in the human genome, is located in the pseudoautosomal region (PAR1) on the short arm of the X chromosome (Xp22.3) and Y chromosome (Yp11.3). More particularly, the invention relates to methods for treating a SHOX gene disorder, other than Turner syndrome, due to deficiency of one copy (haploinsufficiency) of the SHOX gene, by administering a growth hormone, particularly by administering human growth hormone to a human subject with a SHOX gene disorder.
机译:本发明涉及治疗与人类体内基因组中位于X染色体短臂上的假常染色体区(PAR1)中的含短身同源盒(SHOX)基因有关的短身障碍的方法和制造品。 (Xp22.3)和Y染色体(Yp11.3)。更具体地,本发明涉及通过施用生长激素,特别是通过对人受试者施用生长激素来治疗由于SHOX基因的一个拷贝(单倍不足)而引起的除Turner综合征以外的SHOX基因疾病的方法。患有SHOX基因疾病。

著录项

  • 公开/公告号AU1292201A

    专利类型

  • 公开/公告日2001-06-06

    原文格式PDF

  • 申请/专利权人 RAPPOLD-HOERBRAND GUDRUN;

    申请/专利号AU1292201

  • 发明设计人 GUDRUN RAPPOLD-HOERBRAND;ERCOLE RAO;

    申请日2000-11-08

  • 分类号A61K38/27;A61P19/00;

  • 国家 AU

  • 入库时间 2022-08-22 01:21:08

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