机译:预测临床/生化表型北大/ MHP PAH基因突变的患者
Department of Human and Medical Genetics, Vilnius University, Vilnius 08661, Lithuania.;
Gene Mutation; Phenylketonurias; Restriction MappingMutationdenaturing gradient gel electrophoresisPAH geneLithuania;
机译:预测患有PAH基因突变的PKU / MHP患者的临床/生化表型
机译:预测患有PAH基因突变的PKU / MHP患者的临床/生化表型
机译:验证基于PAH基因型的代谢性苯丙氨酸羟化酶缺乏症表型的预测:来自立陶宛的PKU / MHP患者的调查。
机译:mutations in the adenomatous polyposis coli (apC) gene in patients with familial adenomatous polyposis (Fap) with congenital hypertrophy of the retinal pigment epithelium (CHRpE).