| pubmed-article:3163320 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:3163320 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:3163320 | lifeskim:mentions | umls-concept:C0079588 | lld:lifeskim |
| pubmed-article:3163320 | lifeskim:mentions | umls-concept:C0008628 | lld:lifeskim |
| pubmed-article:3163320 | lifeskim:mentions | umls-concept:C0043292 | lld:lifeskim |
| pubmed-article:3163320 | lifeskim:mentions | umls-concept:C2720163 | lld:lifeskim |
| pubmed-article:3163320 | lifeskim:mentions | umls-concept:C0016263 | lld:lifeskim |
| pubmed-article:3163320 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:3163320 | pubmed:dateCreated | 1988-6-17 | lld:pubmed |
| pubmed-article:3163320 | pubmed:abstractText | The X chromosomes of individuals with isolated steroid sulphatase deficiency (X-linked ichthyosis) from ten families were studied by flow karyotype analysis. In four of the families, a small but significant reduction in the relative fluorescence of the X chromosome was detected consistent with a deletion ranging from 1.2%-3.4% of the X and amounting to a DNA loss of 1.9-5.2 million base pairs. In the remaining six families, three of which demonstrated a molecular deletion of the DNA sequence GMGX9 (DXS237), the relative fluorescence of the X chromosomes was indistinguishable from normal. The phenotypes of those with X deletions detectable by flow cytometry were similar to those of patients without such deletions. | lld:pubmed |
| pubmed-article:3163320 | pubmed:language | eng | lld:pubmed |
| pubmed-article:3163320 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3163320 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:3163320 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3163320 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3163320 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3163320 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:3163320 | pubmed:month | May | lld:pubmed |
| pubmed-article:3163320 | pubmed:issn | 0340-6717 | lld:pubmed |
| pubmed-article:3163320 | pubmed:author | pubmed-author:CookeAA | lld:pubmed |
| pubmed-article:3163320 | pubmed:author | pubmed-author:Ferguson-Smit... | lld:pubmed |
| pubmed-article:3163320 | pubmed:author | pubmed-author:AitkenD ADA | lld:pubmed |
| pubmed-article:3163320 | pubmed:author | pubmed-author:WeirD MDM | lld:pubmed |
| pubmed-article:3163320 | pubmed:author | pubmed-author:AffaraN ANA | lld:pubmed |
| pubmed-article:3163320 | pubmed:author | pubmed-author:MitchellM JMJ | lld:pubmed |
| pubmed-article:3163320 | pubmed:author | pubmed-author:GillardE FEF | lld:pubmed |
| pubmed-article:3163320 | pubmed:author | pubmed-author:YatesJ RJR | lld:pubmed |
| pubmed-article:3163320 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:3163320 | pubmed:volume | 79 | lld:pubmed |
| pubmed-article:3163320 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:3163320 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:3163320 | pubmed:pagination | 49-52 | lld:pubmed |
| pubmed-article:3163320 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
| pubmed-article:3163320 | pubmed:meshHeading | pubmed-meshheading:3163320-... | lld:pubmed |
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| pubmed-article:3163320 | pubmed:meshHeading | pubmed-meshheading:3163320-... | lld:pubmed |
| pubmed-article:3163320 | pubmed:meshHeading | pubmed-meshheading:3163320-... | lld:pubmed |
| pubmed-article:3163320 | pubmed:meshHeading | pubmed-meshheading:3163320-... | lld:pubmed |
| pubmed-article:3163320 | pubmed:meshHeading | pubmed-meshheading:3163320-... | lld:pubmed |
| pubmed-article:3163320 | pubmed:meshHeading | pubmed-meshheading:3163320-... | lld:pubmed |
| pubmed-article:3163320 | pubmed:meshHeading | pubmed-meshheading:3163320-... | lld:pubmed |
| pubmed-article:3163320 | pubmed:meshHeading | pubmed-meshheading:3163320-... | lld:pubmed |
| pubmed-article:3163320 | pubmed:meshHeading | pubmed-meshheading:3163320-... | lld:pubmed |
| pubmed-article:3163320 | pubmed:year | 1988 | lld:pubmed |
| pubmed-article:3163320 | pubmed:articleTitle | X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis). | lld:pubmed |
| pubmed-article:3163320 | pubmed:affiliation | Duncan Guthrie Institute of Medical Genetics, University of Glasgow, Yorkhill, UK. | lld:pubmed |
| pubmed-article:3163320 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:3163320 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:3163320 | lld:pubmed |
