Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa.
Avila-Fernandez
A
A
Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain. aavila@fjd.es
Vallespin
E
E
Cantalapiedra
D
D
Riveiro-Alvarez
R
R
Gimenez
A
A
Trujillo-Tiebas
M J
MJ
Ayuso
C
C
D006162:Guanylate Cyclase / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011956:Receptors, Cell Surface / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*
D011956:Receptors, Cell Surface; C110715:guanylate cyclase 1; D006162:Guanylate Cyclase