- Tytuł:
- Modification of the PROM1 disease phenotype by a mutation in ABCA4 .
- Autorzy:
- Źródło:
- Ophthalmic genetics [Ophthalmic Genet] 2019 Aug; Vol. 40 (4), pp. 369-375. Date of Electronic Publication: 2019 Sep 06.
- Typ publikacji:
- Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Mutation*
AC133 Antigen/*genetics
ATP-Binding Cassette Transporters/*genetics
Macular Degeneration/*pathology
Retinal Degeneration/*pathology
Stargardt Disease/*pathology
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Case-Control Studies ; Female ; Follow-Up Studies ; Humans ; Macular Degeneration/genetics ; Male ; Middle Aged ; Pedigree ; Phenotype ; Prognosis ; Retinal Degeneration/genetics ; Stargardt Disease/genetics ; Young Adult
Czasopismo naukowe