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rdf:type |
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lifeskim:mentions |
umls-concept:C0002085,
umls-concept:C0009325,
umls-concept:C0028630,
umls-concept:C0029434,
umls-concept:C0033382,
umls-concept:C0086418,
umls-concept:C0205171,
umls-concept:C0392747,
umls-concept:C0443172,
umls-concept:C0678226,
umls-concept:C1979844
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pubmed:issue |
16
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pubmed:dateCreated |
1986-9-25
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pubmed:abstractText |
We have characterized a mutation in a pro alpha 1(I) procollagen gene (COL1A1) that results in lethal (type II) osteogenesis imperfecta. The mutation is a single base change that results in a cysteine-for-glycine substitution at position 988 of the triple-helical portion of half of the alpha 1(I) chains of type I collagen. The mutation thus disrupts the (Gly-Xaa-Yaa)n pattern necessary for triple-helix formation, where Xaa and Yaa are other amino acids. These experiments establish the minimal mutation in a type I collagen gene capable of producing lethal disease, and the lethality demonstrates a selective mechanism for the stringent maintenance of the collagen gene structure.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-271968,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-2981843,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-2981871,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-322279,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-3857621,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-3899103,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-4022126,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-458828,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-4651137,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-6094581,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-6259625,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-6419811,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-6421277,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-6469997,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-6702894,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-6702896,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-6863261,
http://linkedlifedata.com/resource/pubmed/commentcorrection/3016737-710450
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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 |
Aug
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pubmed:issn |
0027-8424
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
83
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
6045-7
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:3016737-Alleles,
pubmed-meshheading:3016737-Amino Acid Sequence,
pubmed-meshheading:3016737-Base Sequence,
pubmed-meshheading:3016737-Cloning, Molecular,
pubmed-meshheading:3016737-DNA Restriction Enzymes,
pubmed-meshheading:3016737-Genes,
pubmed-meshheading:3016737-Genes, Lethal,
pubmed-meshheading:3016737-Humans,
pubmed-meshheading:3016737-Infant,
pubmed-meshheading:3016737-Mutation,
pubmed-meshheading:3016737-Osteogenesis Imperfecta,
pubmed-meshheading:3016737-Procollagen
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pubmed:year |
1986
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pubmed:articleTitle |
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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