Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA).
Vallespin
Elena
E
Genetics, Fundación Jimenez Diaz, Avenida Reyes Católios, 2, 28040, Madrid, Spain. evallespin@gmail.com
Avila-Fernandez
A
A
Almoguera
B
B
Cantalapiedra
D
D
Garcia-Hoyos
M
M
Riveiro-Alvarez
R
R
Aguirre-Lamban
J
J
Bustamante-Aragones
A
A
Trujillo-Tiebas
M J
MJ
Ayuso
C
C
D001483:Base Sequence; D003062:Codon / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics*; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D017384:Sequence Deletion
D003062:Codon; D005136:Eye Proteins; C522405:LCA5 protein, human; D008869:Microtubule-Associated Proteins