(Q73339581)
Statements
Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family (English)
Van Ghelue M
Eriksen HL
Ponjavic V
Fagerheim T
Andréasson S
Forsman-Semb K
Sandgren O
Holmgren G
Tranebjaerg L
1 December 2000