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Identification and functional characterization of a novel splicing mutation in RP gene PRPF31.
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相关项目:新的遗传性癫痫致病基因的鉴定与克隆
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新的遗传性癫痫致病基因的鉴定与克隆
期刊论文 15
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Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the
Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family
9;21相互易位携带者生育多例9p部分三体患者细胞遗传学研究
中国汉族人念珠状发患者hHB6基因突变检测
家族性Fahr病一家系九例
A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33.
Identification of a Genetic Locus for Ichthyosis Vulgaris on Chromosome 10q22.3-q24.2.
A novel mutation in the ATP2C1 gene is associated with HHD in a Chinese family.
Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family
Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta
9;21相互易位携带者生育多例9p部分三体患者细胞遗传学分析
家族性特发性震颤一家系25例
泛发性发疹型汗管瘤一家系八例
Molecular Genetic Analysis of Partial 9p Trisomy in Two Chinese Families with Mental Retardation and Facial Anomaly