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CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix.
Bonet-Fernández JM, Aroca-Aguilar JD, Corton M, Ramírez AI, Alexandre-Moreno S, García-Antón MT, Salazar JJ, Ferre-Fernández JJ, Atienzar-Aroca R, Villaverde C, Iancu I, Tamayo A, Méndez-Hernández CD, Morales-Fernández L, Rojas B, Ayuso C, Coca-Prados M, Martinez-de-la-Casa JM, García-Feijoo J, Escribano J. Bonet-Fernández JM, et al. Among authors: ayuso c. Hum Genet. 2020 Oct;139(10):1209-1231. doi: 10.1007/s00439-020-02164-0. Epub 2020 Apr 9. Hum Genet. 2020. PMID: 32274568
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: 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.
576 results