Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type
队列研究中X连锁显性低磷性佝偻病的基因诊断：肾小管磷酸盐重吸收和1,25(OH)2D血清水平与PHEX突变类型相关
期刊:BMC Medical Genetics
影响因子:
doi:10.1186/1471-2350-12-116
Morey, Marcos; Castro-Feijóo, Lidia; Barreiro, Jesús; Cabanas, Paloma; Pombo, Manuel; Gil, Marta; Bernabeu, Ignacio; Díaz-Grande, José M; Rey-Cordo, Lourdes; Ariceta, Gema; Rica, Itxaso; Nieto, José; Vilalta, Ramón; Martorell, Loreto; Vila-Cots, Jaime; Aleixandre, Fernando; Fontalba, Ana; Soriano-Guillén, Leandro; García-Sagredo, José M; García-Miñaur, Sixto; Rodríguez, Berta; Juaristi, Saioa; García-Pardos, Carmen; Martínez-Peinado, Antonio; Millán, José M; Medeira, Ana; Moldovan, Oana; Fernandez, Angeles; Loidi, Lourdes
