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Identification of novel missense mutations of the TGFBR3 gene in Chinese women with premature ovarian failure  Chun-rong Qin, Shi-ling Chen, Ji-long Yao,

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Presentation on theme: "Identification of novel missense mutations of the TGFBR3 gene in Chinese women with premature ovarian failure  Chun-rong Qin, Shi-ling Chen, Ji-long Yao,"— Presentation transcript:

1 Identification of novel missense mutations of the TGFBR3 gene in Chinese women with premature ovarian failure  Chun-rong Qin, Shi-ling Chen, Ji-long Yao, Wei-qing Wu, Jian-sheng Xie  Reproductive BioMedicine Online  Volume 23, Issue 6, Pages (December 2011) DOI: /j.rbmo Copyright © 2011 Reproductive Healthcare Ltd. Terms and Conditions

2 Figure 1 Sequencing figures illustrating two novel missense variants of transforming growth factor β receptor, type III, p.E459G and p.P825L, found among the 112 Chinese women with idiopathic premature ovarian failure. The missense variants are shown in the top panel and the wildtype DNA sequences are presented the lower panel. Reproductive BioMedicine Online  , DOI: ( /j.rbmo ) Copyright © 2011 Reproductive Healthcare Ltd. Terms and Conditions

3 Figure 2 Schematic diagram of the human transforming growth factor β receptor, type III gene, showing variants in relation to exons (numbered), domain organization and multiple protein-sequence alignment to show the locations of p.E459G and p.P825L. The two residues are highly conserved across different species. UniProt accession numbers: Homo sapiens (NP_003234); Canis familiaris (XP_547284); Bos taurus (E1B9H5); Sus scrofa (NP_999437); Rattus norvegicus (NP_058952); Gallus gallus (NP_989670). Reproductive BioMedicine Online  , DOI: ( /j.rbmo ) Copyright © 2011 Reproductive Healthcare Ltd. Terms and Conditions


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