- Tytuł:
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
- Autorzy:
- Źródło:
- Nature genetics [Nat Genet] 2010 Jul; Vol. 42 (7), pp. 619-25. Date of Electronic Publication: 2010 May 30.
- Typ publikacji:
- Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Mutation*
Abnormalities, Multiple/*genetics
Cilia/*pathology
Membrane Proteins/*genetics
Abnormalities, Multiple/pathology ; Amino Acid Sequence ; Animals ; Base Sequence ; Cell Line ; Consanguinity ; Embryo, Mammalian/embryology ; Embryo, Mammalian/metabolism ; Gastrulation/genetics ; Gene Expression Regulation, Developmental ; Genetic Predisposition to Disease ; Green Fluorescent Proteins/genetics ; Green Fluorescent Proteins/metabolism ; Humans ; In Situ Hybridization ; Jews/genetics ; Microscopy, Confocal ; Molecular Sequence Data ; Pedigree ; Polymorphism, Single Nucleotide ; RNA Interference ; Syndrome ; Zebrafish/embryology ; Zebrafish/genetics
Czasopismo naukowe