囊性纤维化
囊性纤维化跨膜传导调节器
等位基因
复合杂合度
基因型
表型
突变
杂合子优势
内科学
分子生物学
医学
内分泌学
生物
遗传学
化学
基因
作者
Vito Terlizzi,Giuseppe Castaldo,Donatello Salvatore,Marco Lucarelli,Valeria Raia,Adriano Angioni,Vincenzo Carnovale,Natalia Cirilli,Rosaria Casciaro,Carla Colombo,Antonella Miriam Di Lullo,Ausilia Elce,Paola Iacotucci,Marika Comegna,Manuela Scorza,V. Lucidi,Anna Perfetti,Roberta Cimino,Serena Quattrucci,Manuela Seia
标识
DOI:10.1136/jmedgenet-2016-103985
摘要
The effect of complex alleles partially depends on the mutation in trans. Although larger studies are necessary, the CFTR activity on NEC is a rapid contributory tool to classify patients with CFTR dysfunction.
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