机译:X连锁显性低磷酸盐血症Ri门的三个中国家庭中PHEX基因的三个新突变。
Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Shuaifuyuan No. 1 Wangfujing Dongcheng District Beijing 100730 China;
Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Shuaifuyuan No. 1 Wangfujing Dongcheng District Beijing 100730 China;
Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Shuaifuyuan No. 1 Wangfujing Dongcheng District Beijing 100730 China;
Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Shuaifuyuan No. 1 Wangfujing Dongcheng District Beijing 100730 China;
Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Shuaifuyuan No. 1 Wangfujing Dongcheng District Beijing 100730 China;
Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Shuaifuyuan No. 1 Wangfujing Dongcheng District Beijing 100730 China;
Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Shuaifuyuan No. 1 Wangfujing Dongcheng District Beijing 100730 China;
Department of Endocrinology Second Artillery Forces General Hospital People’s Liberation Army Beijing China;
Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Shuaifuyuan No. 1 Wangfujing Dongcheng District Beijing 100730 China;
Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Shuaifuyuan No. 1 Wangfujing Dongcheng District Beijing 100730 China;
Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Shuaifuyuan No. 1 Wangfujing Dongcheng District Beijing 100730 China;
Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Shuaifuyuan No. 1 Wangfujing Dongcheng District Beijing 100730 China;
X-linked hypophosphatemic rickets; PHEX; FGF23; Mutation;
机译:四种中国家庭的三种新的PHEX基因突变,具有X型X型显性次磷酸性佝偻病
机译:X连锁显性低磷病的三个中国家庭中PHEX基因的三个新突变。
机译:X连锁低磷性病的6例中国家庭PHEX基因突变
机译:PTCH1基因的新型突变激活了中国患有避免基底细胞癌综合征的中国家庭的Shh / Gli信号通路
机译:调查导致常染色体显性遗传性视网膜色素变性的两个普遍表达的管家基因突变的致病性。
机译:X连锁显性低磷病患者的PHEX基因的两个新变体以及这些家庭中胎儿的产前诊断
机译:一项队列研究中X连锁显性低磷酸盐血症性rick病的遗传学诊断:磷酸盐和1,25(OH)2D血清水平的管状重吸收与PHEX突变类型相关