Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature.
第一作者:
Jian,Wang
第一单位:
State Key laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
作者:
主题词
氨基酸序列(Amino Acid Sequence);身高(Body Height);女(雌)性(Female);HEK293细胞(HEK293 Cells);人类(Humans);男(雄)性(Male);分子序列数据(Molecular Sequence Data);突变, 误义(Mutation, Missense);甲状旁腺激素相关蛋白质(Parathyroid Hormone-Related Protein);系谱(Pedigree);序列分析, 蛋白质(Sequence Analysis, Protein)
DOI
10.1016/j.cca.2015.03.019
PMID
25801215
发布时间
2022-12-07
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