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An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: The use of minigene assay in splicing analysis
Xiao, Yan, Yang, Kun-Qi, Zhou, Xian-Liang, Shen, Yu-Qi, Lu, Chao-Xia, Zhang, XueVolume:
442
Language:
english
Journal:
Clinica Chimica Acta
DOI:
10.1016/j.cca.2015.01.019
Date:
March, 2015
File:
PDF, 591 KB
english, 2015