- Tytuł:
- Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.
- Autorzy:
- Źródło:
- Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2022 Nov; Vol. 37 (11), pp. 2657-2665. Date of Electronic Publication: 2022 Feb 24.
- Typ publikacji:
- Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Adaptor Proteins, Signal Transducing*/analysis
Adaptor Proteins, Signal Transducing*/genetics
Polycystic Kidney, Autosomal Recessive*/diagnosis
Polycystic Kidney, Autosomal Recessive*/genetics
Child ; Consanguinity ; Genetic Testing/methods ; Humans ; Mutation ; Receptors, Cell Surface/genetics ; Exome Sequencing
Czasopismo naukowe