High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

Barreda-Sánchez, María; Buendía-Martínez, Juan; Glover-López, Guillermo; Carazo-Díaz, Carmen; Ballesta-Martínez, María Juliana; López-González, Vanesa; Sánchez-Soler, María José; Rodriguez-Peña, Lidya; Serrano-Antón, Ana Teresa; Gil-Ferrer, Remedios; Martínez-Romero, Maria del Carmen; Carbonell-Meseguer, Pablo; Guillén-Navarro, Encarna

期刊名称Orphanet Journal of Rare Diseases
作者Barreda-Sánchez, María; Buendía-Martínez, Juan; Glover-López, Guillermo; Carazo-Díaz, Carmen; Ballesta-Martínez, María Juliana; López-González, Vanesa; Sánchez-Soler, María José; Rodriguez-Peña, Lidya; Serrano-Antón, Ana Teresa; Gil-Ferrer, Remedios; Martínez-Romero, Maria del Carmen; Carbonell-Meseguer, Pablo; Guillén-Navarro, Encarna
卷第14卷
期第1期
电子ISSN1750-1172
文件大小558.74KB
发表时间2019-12
DOI10.1186/s13023-019-1031-7

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High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor