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A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
Jin, Jie-Yuan; Zeng, Lei; Li, Ke; He, Ji-Qiang; Pang, Xiaoyang; Huang, Hao; Xiang, Rong; Tang, Ju-Yu.
Affiliation
  • Jin JY; School of Life Sciences, Central South University, Changsha, China.
  • Zeng L; Department of Orthopaedics, Xiangya Hospital of Central South University, Changsha, China.
  • Li K; School of Life Sciences, Central South University, Changsha, China.
  • He JQ; XiangYa School of Medicine, Central South University, Changsha, China.
  • Pang X; School of Life Sciences, Central South University, Changsha, China.
  • Huang H; School of Life Sciences, Central South University, Changsha, China.
  • Xiang R; Department of Orthopaedics, Xiangya Hospital of Central South University, Changsha, China.
  • Tang JY; School of Life Sciences, Central South University, Changsha, China.
J Gene Med ; 21(10): e3122, 2019 10.
Article in En | MEDLINE | ID: mdl-31420900
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Limb Deformities, Congenital / Amino Acid Substitution / Tumor Suppressor Proteins / Alleles / Anodontia / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child / Female / Humans / Male Language: En Journal: J Gene Med Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2019 Type: Article Affiliation country: China
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Limb Deformities, Congenital / Amino Acid Substitution / Tumor Suppressor Proteins / Alleles / Anodontia / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child / Female / Humans / Male Language: En Journal: J Gene Med Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2019 Type: Article Affiliation country: China