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Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions
Camprubí C, Guitart M, Gabau E, Coll MD, Villatoro S, Oltra S, Roselló M, Ferrer I, Monfort S, Orellana C, Martínez F. Am J Med Genet A. 2009 Mar;149A(3):343-8
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