Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency
PROP1基因中两个共存的杂合移码突变导致了垂体激素联合缺乏症的不同表型。
期刊:Journal of Applied Genetics
影响因子:1.9
doi:10.1007/s13353-015-0328-z
Ziemnicka, K; Budny, B; Drobnik, K; Baszko-Błaszyk, D; Stajgis, M; Katulska, K; Waśko, R; Wrotkowska, E; Słomski, R; Ruchała, M