Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis.
作者信息
Derichs N, Schuster A, Grund I, Ernsting A, Stolpe C, Körtge-Jung S, Gallati S, Stuhrmann M, Kozlowski P, Ballmann M