Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis.
Auz-Alexandre
Carmen-Laura
CL
Fundacion Jimenez Diaz, Madrid, Spain. clauz@fjd.es
Vallespin
E
E
Aguirre-Lamban
J
J
Cantalapiedra
D
D
Avila-Fernandez
A
A
Villaverde-Montero
C
C
Ainse
E
E
Trujillo-Tiebas
M J
MJ
Ayuso
C
C