Exons 2-4 which encode the first 11 predicted transmembrane domains were deleted. No protein was detectable by western blot in the retinal pigment epithelium. (J:138634)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count