A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family
在一个黑人非洲近亲结婚的囊性纤维化家族中发现了一种新的3600+11.5 kb C>G纯合剪接突变
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg.38.1.e4
Monnier, N; Gout, J P; Pin, I; Gauthier, G; Lunardi, J