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rdf:type |
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lifeskim:mentions |
umls-concept:C0002520,
umls-concept:C0009332,
umls-concept:C0017890,
umls-concept:C0030705,
umls-concept:C0042285,
umls-concept:C0205147,
umls-concept:C0205174,
umls-concept:C0268338,
umls-concept:C0733755,
umls-concept:C1555721,
umls-concept:C1706204
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pubmed:issue |
7
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pubmed:dateCreated |
1991-10-21
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pubmed:abstractText |
We have studied a patient with Ehlers-Danlos syndrome type IV. Protein mapping studies of her type III collagen had indicated that cyanogen bromide fragment 9 contained the site of the mutation. Here we describe the mapping of this region for a single base mutation using a chemical modification and cleavage technique. Sequence analysis of cDNA showed a G to T mutation resulting in the substitution of glycine 910 by valine. This was confirmed by allele specific oligonucleotide hybridisation to the proband's genomic DNA.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-1055406,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-1195397,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2145268,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2243125,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2349939,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2365710,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2450280,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2492273,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2570401,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2683782,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2683783,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2722184,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2757028,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2764886,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2777764,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2808425,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2834369,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2875936,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2981879,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-2999980,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-3162228,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-3260032,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-3827862,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-3856838,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-4022126,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-458828,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-6096827,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-6259441,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-6546423,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1895316-6702894
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0022-2593
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
458-63
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:1895316-Alleles,
pubmed-meshheading:1895316-Amino Acid Sequence,
pubmed-meshheading:1895316-Base Sequence,
pubmed-meshheading:1895316-Collagen,
pubmed-meshheading:1895316-DNA,
pubmed-meshheading:1895316-DNA Mutational Analysis,
pubmed-meshheading:1895316-Ehlers-Danlos Syndrome,
pubmed-meshheading:1895316-Female,
pubmed-meshheading:1895316-Glycine,
pubmed-meshheading:1895316-Humans,
pubmed-meshheading:1895316-Middle Aged,
pubmed-meshheading:1895316-Molecular Sequence Data,
pubmed-meshheading:1895316-Nucleic Acid Hybridization,
pubmed-meshheading:1895316-Polymerase Chain Reaction,
pubmed-meshheading:1895316-Valine
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pubmed:year |
1991
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pubmed:articleTitle |
Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.
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pubmed:affiliation |
Dermatology Research Group, Clinical Research Centre, Northwick Park Hospital, Harrow, Middlesex.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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