| pubmed-article:1570846 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1570846 | lifeskim:mentions | umls-concept:C0439660 | lld:lifeskim |
| pubmed-article:1570846 | lifeskim:mentions | umls-concept:C0017398 | lld:lifeskim |
| pubmed-article:1570846 | lifeskim:mentions | umls-concept:C0016667 | lld:lifeskim |
| pubmed-article:1570846 | lifeskim:mentions | umls-concept:C0443343 | lld:lifeskim |
| pubmed-article:1570846 | lifeskim:mentions | umls-concept:C0013879 | lld:lifeskim |
| pubmed-article:1570846 | lifeskim:mentions | umls-concept:C1710548 | lld:lifeskim |
| pubmed-article:1570846 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:1570846 | pubmed:dateCreated | 1992-5-26 | lld:pubmed |
| pubmed-article:1570846 | pubmed:abstractText | The fragile site at Xq27.3 is an unstable microsatellite repeat, p(CCG)n. In fragile-X syndrome pedigrees, this sequence exhibits variable amplification, the length of which correlates with fragile-site expression. There is a direct relationship between increased p(CCG)n copy number and propensity for instability: individuals having large amplifications exhibit somatic variation due to increased instability. The instability of the p(CCG)n repeat, when transmitted through affected pedigrees, explains the unusual segregation patterns of fragile-X phenotype, referred to as the Sherman paradox. All individuals of fragile-X genotype were found (where testing was possible) to have a parent with amplified p(CCG)n repeat, indicating that few, if any, cases of fragile-X syndrome are not familial. | lld:pubmed |
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| pubmed-article:1570846 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1570846 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1570846 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:1570846 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1570846 | pubmed:month | May | lld:pubmed |
| pubmed-article:1570846 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:1570846 | pubmed:author | pubmed-author:LynchMM | lld:pubmed |
| pubmed-article:1570846 | pubmed:author | pubmed-author:YuSS | lld:pubmed |
| pubmed-article:1570846 | pubmed:author | pubmed-author:TurnerGG | lld:pubmed |
| pubmed-article:1570846 | pubmed:author | pubmed-author:MullerCC | lld:pubmed |
| pubmed-article:1570846 | pubmed:author | pubmed-author:LoeschDD | lld:pubmed |
| pubmed-article:1570846 | pubmed:author | pubmed-author:PritchardMM | lld:pubmed |
| pubmed-article:1570846 | pubmed:author | pubmed-author:GedeonAA | lld:pubmed |
| pubmed-article:1570846 | pubmed:author | pubmed-author:KremenAA | lld:pubmed |
| pubmed-article:1570846 | pubmed:author | pubmed-author:HillenDD | lld:pubmed |
| pubmed-article:1570846 | pubmed:author | pubmed-author:DonnellyAA | lld:pubmed |
| pubmed-article:1570846 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1570846 | pubmed:volume | 50 | lld:pubmed |
| pubmed-article:1570846 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1570846 | pubmed:authorsComplete | N | lld:pubmed |
| pubmed-article:1570846 | pubmed:pagination | 968-80 | lld:pubmed |
| pubmed-article:1570846 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:1570846 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1570846 | pubmed:articleTitle | Fragile-X syndrome: unique genetics of the heritable unstable element. | lld:pubmed |
| pubmed-article:1570846 | pubmed:affiliation | Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, Australia. | lld:pubmed |
| pubmed-article:1570846 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1570846 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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