المؤلفون: Peiwen Xu, Sexing Huang, Jie Li, Yang Zou, Ming Gao, Ranran Kang, Junhao Yan, Xuan Gao, Yuan Gao

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Autosomal dominant polycystic kidney disease, PKD1 gene, Novel splice mutation, Frameshift mutation, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0706-6; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/11c7de69c5eb45fdb3895400983bbc7b

المؤلفون: Sexing Huang, Ming Gao, Yuan Gao, Yang Zou, Junhao Yan, Peiwen Xu, Xuan Gao, Ranran Kang, Jie Li

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, lcsh:Internal medicine, TRPP Cation Channels, lcsh:QH426-470, RNA Splicing, Autosomal dominant polycystic kidney disease, Case Report, Biology, urologic and male genital diseases, Frameshift mutation, 03 medical and health sciences, Exon, Asian People, Novel splice mutation, Genetics, medicine, Humans, lcsh:RC31-1245, Gene, Genetics (clinical), PKD1 gene, PKD1, Base Sequence, urogenital system, Sequence Analysis, RNA, Middle Aged, medicine.disease, Polycystic Kidney, Autosomal Dominant, female genital diseases and pregnancy complications, Pedigree, lcsh:Genetics, 030104 developmental biology, MRNA Sequencing, RNA splicing, Mutation (genetic algorithm), Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff170a0f90f9f33a8bfe0aea30fc62d3
http://europepmc.org/articles/PMC6234645