PMON312 A De Novo Heterozygous Nonsense Variant In The SEC31A Gene Associated With Pituitary Hormone Deficiency And Disorders Of Sex Development
PMON312 是 SEC31A 基因中一种与垂体激素缺乏和性发育障碍相关的从头杂合无义变异
期刊:Brain Pathology
影响因子:6.2
doi:10.1111/j.1750-3639.2008.00158.x
Bernreuther, Christian; Flitsch, Jörg; Lüdecke, Dieter K; Hagel, Christian; Greenfield, Andy; Herzyk, Pawel; Lucas-Herald, Angela K; McGowan, Ruth; SGP, Scottish Genomes Partnership; Touyz, Rhian M; Williams, Nicola; Tobias, Edward S; Sagar, Danielle; Montezano, Augusto C; Rios, Francisco J; de Lucca Camargo, Livia; Hamilton, Graham; Gazdagh, Gabriella
