Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney diseases. More than 13 genes are implicated in its pathogenesis to date, accounting for only 40 % of all cases. High-throughput mutation screenings of large patient cohorts represent a powerful tool for diagnostics...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Hum Genet
Главные авторы: Halbritter, Jan, Porath, Jonathan D., Diaz, Katrina A., Braun, Daniela A., Kohl, Stefan, Chaki, Moumita, Allen, Susan J., Soliman, Neveen A., Hildebrandt, Friedhelm, Otto, Edgar A.
Формат: Artigo
Язык:Inglês
Опубликовано: 2013
Предметы:
Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4643834/
https://ncbi.nlm.nih.gov/pubmed/23559409
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-013-1297-0
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы