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Whole exome sequencing implicates PTCH1 and COL17A1 genes in ossification of the posterior longitudi
[会议论文] 作者：Wei Wei,Hailong He,Chunyue Chen,Yan Zhao,Huling Jiang,Wenting Liu,Zhenfang Du,Xiaoling Chen,Shiyuan Shi,
来源：2015中国遗传学会大会 年份：2015
Ossification of the posterior longitudinal ligament (OPLL;OMIM #602475) is characterized by pathological ectopic ossification of the cervical and thoracic s...
KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palm
[会议论文] 作者：Haiping Ke,Huling Jiang,Yasu Lv,Yizhou Huang,Rongrong Liu,Xiaoling Chen,Zhenfang Du,Yuqin Luo,Chenming,
来源：2015中国遗传学会大会 年份：2015
Epidermolytic palmoplantar keratoderma (EPPK, OMIM: 144200), an autosomal dominant genodermatosis first described by Vorner in 1901, is the most common form...
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