The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications

Genes and Diseases - Tập 8 - Trang 715-720 - 2021
Haoyue Xu1, Hang Liu1, Tao Chen1, Bo Song1, Jin Zhu2, Xing Liu1,3, Ming Li1, Cong Luo1
1Department of Orthopedic, Chongqing Children's Hospital, Chongqing Medical University, No. 136 of Zhong Shan Er Lu, Chongqing, 400014, PR China
2Department of Pathology, Chongqing Children's Hospital, Chongqing Medical University, No. 136 of Zhong Shan Er Lu, Chongqing, 400014, PR China
3Molecular Oncology Laboratory, Department of Orthopaedic Surgery, The University of Chicago Medical Center, Chicago, IL 60637, USA

Tài liệu tham khảo

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