Browsing Maestría en Genética Humana by Subject "Fibrosis Quística"

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Variantes del gen CFTR en pacientes con diagnóstico de fibrosis quística de la Fundación Fundafiq Cuenca-Ecuador

Flores García, Mónica Susana (Universidad Peruana Cayetano HerediaPE, 2020)

Cystic Fibrosis is an autosomal recessive disease caused by loss of function variants in the CFTR gene. Knowing the genetics of the disease is difficult, because at present more than 2000 different genetic variants have ...