| pubmed-article:17482612 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17482612 | lifeskim:mentions | umls-concept:C0085215 | lld:lifeskim |
| pubmed-article:17482612 | lifeskim:mentions | umls-concept:C0043210 | lld:lifeskim |
| pubmed-article:17482612 | lifeskim:mentions | umls-concept:C0152035 | lld:lifeskim |
| pubmed-article:17482612 | lifeskim:mentions | umls-concept:C1333668 | lld:lifeskim |
| pubmed-article:17482612 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:17482612 | lifeskim:mentions | umls-concept:C0936012 | lld:lifeskim |
| pubmed-article:17482612 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:17482612 | pubmed:dateCreated | 2007-11-9 | lld:pubmed |
| pubmed-article:17482612 | pubmed:abstractText | We screened growth differentiation factor 9 coding regions for mutations in a Chinese sample of 100 women with premature ovarian failure and discovered four novel single-nucleotide polymorphisms: c.436C>T (p.Arg146Cys), c.588A>C (silent), c.712A>G (p.Thr238Ala), and c.1283G>C (p.Ser428Thr). Nonsynonymous single-nucleotide polymorphisms c.436C>T and c.1283G>C were also detected in the control population. The c.712A>G perturbation results in a missense mutation (p.Thr238Ala) and was not present in any of 96 controls. Substitution of the hydrophobic amino acid residue alanine for hydrophilic threonine may disrupt growth differentiation factor 9 function. | lld:pubmed |
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| pubmed-article:17482612 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:17482612 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:17482612 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17482612 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:17482612 | pubmed:issn | 1556-5653 | lld:pubmed |
| pubmed-article:17482612 | pubmed:author | pubmed-author:RajkovicAleks... | lld:pubmed |
| pubmed-article:17482612 | pubmed:author | pubmed-author:SimpsonJoe... | lld:pubmed |
| pubmed-article:17482612 | pubmed:author | pubmed-author:KovanciErtugE | lld:pubmed |
| pubmed-article:17482612 | pubmed:author | pubmed-author:ZhaoHanH | lld:pubmed |
| pubmed-article:17482612 | pubmed:author | pubmed-author:ChenZi-JiangZ... | lld:pubmed |
| pubmed-article:17482612 | pubmed:author | pubmed-author:QinYingyingY | lld:pubmed |
| pubmed-article:17482612 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:17482612 | pubmed:volume | 88 | lld:pubmed |
| pubmed-article:17482612 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17482612 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17482612 | pubmed:pagination | 1474-6 | lld:pubmed |
| pubmed-article:17482612 | pubmed:dateRevised | 2011-9-26 | lld:pubmed |
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| pubmed-article:17482612 | pubmed:year | 2007 | lld:pubmed |
| pubmed-article:17482612 | pubmed:articleTitle | Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure. | lld:pubmed |
| pubmed-article:17482612 | pubmed:affiliation | Center for Reproductive Medicine, Shandong Provincial Hospital, Shandong University, Jinan, China. | lld:pubmed |
| pubmed-article:17482612 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:17482612 | pubmed:publicationType | Comparative Study | lld:pubmed |
| pubmed-article:17482612 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:17482612 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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