載入...

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is an early-onset form of polycystic kidney disease that often leads to devastating outcomes for patients. ARPKD is caused by mutations in the PKHD1 gene, an extensive gene that encodes for the ciliary protein fibrocystin/polyductin....

全面介紹

Na minha lista:
書目詳細資料
發表在:BMC Med Genet
Main Authors: Obeidova, Lena, Seeman, Tomas, Elisakova, Veronika, Reiterova, Jana, Puchmajerova, Alena, Stekrova, Jitka
格式: Artigo
語言:Inglês
出版: BioMed Central 2015
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4689053/
https://ncbi.nlm.nih.gov/pubmed/26695994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0261-3
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!