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Page 1
Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly.
Rodriguez-Laguna L, Agra N, Ibañez K, Oliva-Molina G, Gordo G, Khurana N, Hominick D, Beato M, Colmenero I, Herranz G, Torres Canizalez JM, Rodríguez Pena R, Vallespín E, Martín-Arenas R, Del Pozo Á, Villaverde C, Bustamante A, Ayuso C, Lapunzina P, Lopez-Gutierrez JC, Dellinger MT, Martinez-Glez V. Rodriguez-Laguna L, et al. Among authors: ayuso c. J Exp Med. 2019 Feb 4;216(2):407-418. doi: 10.1084/jem.20181353. Epub 2018 Dec 27. J Exp Med. 2019. PMID: 30591517 Free PMC article.
Gene symbol: ABCA4. Disease: Stargardt disease 1.
Riveiro-Alvarez R, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, Ayuso C. Riveiro-Alvarez R, et al. Among authors: ayuso c. Hum Genet. 2006 Jul;119(6):671. Hum Genet. 2006. PMID: 17128450 No abstract available.
Gene symbol: NDP. Disease: Norrie disease.
Riveiro-Alvarez R, Trujillo MJ, Gimenez A, Cantalapiedra D, Vallespin E, Villaverde C, Ayuso C. Riveiro-Alvarez R, et al. Among authors: ayuso c. Hum Genet. 2006 Jul;119(6):675. Hum Genet. 2006. PMID: 17128466 No abstract available.
Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.
Vallespin E, Riveiro-Alvarez R, Aguirre-Lamban J, Cantalapiedra D, Tapias I, Garcia-Sandoval B, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Among authors: ayuso c. Hum Genet. 2006 Jul;119(6):681. Hum Genet. 2006. PMID: 17128490 No abstract available.
Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538.
Riveiro-Alvarez R, Aguirre J, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, Ayuso C. Riveiro-Alvarez R, et al. Among authors: ayuso c. Hum Genet. 2006 Feb;118(6):778. Hum Genet. 2006. PMID: 17297693 No abstract available.
575 results