A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis.

著录项

• 来源
  《Human mutation》 |2000年第5期|共1页
• 作者

  Padoan R; Bassotti A; Seia M; Ambrosioni A; Fiori S; Prandoni S; Rajnoldi AC; Giunta A; Corbetta C;

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• 作者单位

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• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 基础医学;
• 关键词

  Alkalosis; Amino Acid Substitution; Chlorides; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; 碱中毒; 氨基酸取代; 氯化物; 囊性纤维变性; 囊性纤维化穿膜传导调节因子; 突变; 误义;

  机译：Alkalosis;Amino Acid Substitution;Chlorides;Cystic Fibrosis;Cystic Fibrosis Transmembrane Conductance Regulator;碱中毒;氨基酸取代;氯化物;囊性纤维变性;囊性纤维化穿膜传导调节因子;突变;误义;