Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy

BACKGROUND: Nephronophthisis-associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP), Senior-Loken syndrome (SLS), Joubert syndrome (JBTS), and Meckel-Gruber syndrome (MKS). To date, causative mutations in NPHP-AC have be...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Otto, Edgar A., Ramaswami, Gokul, Janssen, Sabine, Chaki, Moumita, Allen, Susan J., Zhou, Weibin, Airik, Rannar, Hurd, Toby W., Ghosh, Amiya K., Wolf, Matthias T., Hoppe, Bernd, Neuhaus, Thomas J., Bockenhauer, Detlef, Milford, David V., Soliman, Neveen A., Saunier, Sophie, Johnson, Colin A., Hildebrandt, Friedhelm
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3913043/
https://ncbi.nlm.nih.gov/pubmed/21068128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2010.082552
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados