RET Germline Mutations Identified by Exome Sequencing in a Chinese Multiple Endocrine Neoplasia Type 2A/Familial Medullary Thyroid Carcinoma Family

BACKGROUND: Whole exome sequencing provides a labor-saving and direct means of genetic diagnosis of hereditary disorders in which the pathogenic gene harbors a large cohort of exons. We set out to demonstrate a suitable example of genetic diagnosis of MEN 2A/FMTC (multiple endocrine neoplasia type 2...

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Bibliographische Detailangaben
Hauptverfasser: Qi, Xiao-Ping, Ma, Ju-Ming, Du, Zhen-Fang, Ying, Rong-Biao, Fei, Jun, Jin, Hang-Yang, Han, Jian-Shan, Wang, Jin-Quan, Chen, Xiao-Ling, Chen, Chun-Yue, Liu, Wen-Ting, Lu, Jia-Jun, Zhang, Jian-Guo, Zhang, Xian-Ning
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2011
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3105051/
https://ncbi.nlm.nih.gov/pubmed/21655256
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0020353
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