Open AccessIdentification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification
Author(s) -
Xigui Long,
Zhuo Li,
Yanru Huang,
Li Zhang,
Weigang Lv,
Yuanwen Teng,
Siyuan Linpeng,
Desheng Liang,
Lingqian Wu
Publication year - 2019
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000015692
Subject(s) - multiplex ligation dependent probe amplification , genetics , sanger sequencing , exon , nonsense mutation , exome sequencing , mutation , compound heterozygosity , genetic counseling , proband , gene duplication , point mutation , medicine , gene , biology , missense mutation
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