Condition: RETINITIS PIGMENTOSA 79
rs777849213
in
HK1
gene and
RETINITIS PIGMENTOSA 79
PMID 25190649
2014 A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
PMID 26427411
2016 Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).
PMID 25316723
2014 A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.
PMID 28765615
2017 The phenotypic variability of HK1-associated retinal dystrophy.