Novel pathogenic
MAPKBP1
variant in a family with nephronophthisis
Clin Kidney J
.
2020 Jun 24;14(2):728-730.
doi: 10.1093/ckj/sfaa090.
eCollection 2021 Feb.
Authors
Mohamed H Al-Hamed
1
,
Hamad Alzaidan
2
,
Maged Hussein
3
,
Lina Albaik
1
,
Alya Qari
2
,
John A Sayer
4
5
,
Faiqa Imtiaz
1
Affiliations
1
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
2
Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
3
Nephrology Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
4
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle, UK.
5
National Institute for Health Research Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK.
PMID:
33623699
PMCID:
PMC7886576
DOI:
10.1093/ckj/sfaa090
No abstract available