title: Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia.
authors: Fundación Jiménez Díaz, Genética, Madrid, Spain. cvillaverde@fjd.es
authors: Cristina
authors: C
authors: Villaverde
authors: M J
authors: MJ
authors: Trujillo-Tiebas
authors: M
authors: M
authors: Garcia-Hoyos
authors: R C
authors: RC
authors: Narvaiza
authors: N
authors: N
authors: Perez
authors: B
authors: B
authors: Garcia-Sandoval
authors: C
authors: C
authors: Ayuso
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D015794:Choroideremia / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human