Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia
Villaverde C, Trujillo-Tiebas MJ, Garcia-Hoyos M, Perez N, Narvaiza RC, Guillén E, Ayuso C. Hum Genet. 2007 Jun;121(5):648
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A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent’s disease
Ramos-Trujillo E, González-Acosta H, Flores C, García-Nieto V, Guillén E, Gracia S, Vicente C, Espinosa L, Maseda MA, Santos F, Camacho JA, Claverie-Martín F. J Hum Genet. 2007;52(3):255-61
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Am J Hum Genet. 2007 Mar;80(3):485-94.8
Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome
Galán-Gómez E, Sánchez EB, Arias-Castro S, Cardesa-García JJ. Eur J Med Genet. 2007 Mar-Apr;50(2):144-8
