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Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar k
ISSN号:0340-6199
期刊名称:European Journal of Pediatrics
时间:2014.6
页码:737-741
相关项目:I型并指家系新致病变异的精细定位与鉴定
作者:
Wu, Yuanyuan|Guan, Xingying|Bai, Yun|Liao, Qiong|
同期刊论文项目
I型并指家系新致病变异的精细定位与鉴定
期刊论文 14
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A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita
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Pachyonychia congenita with corneal dystrophy
A Large Novel Deletion Downstream ofPAX6 Gene in a Chinese Family with Ocular Coloboma.
Absence of nasal bone and brachydactyly: a probable new familial syndrome.
A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex
Two variants in STK11 gene in Chinese patients with Peutz-Jeghers syndrome
Mutations in the Homeodomain of HOXD13 Cause Syndactyly Type 1-c in Two Chinese Families
Novel and Recurrent Mutations of STK11 Gene in Six Chinese Cases with Peutz-Jeghers Syndrome