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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1988-6-10
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pubmed:databankReference |
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pubmed:abstractText |
To define the molecular basis of a TaqI site alteration in the factor VIII gene of a patient with moderately severe hemophilia A, we used a combination of genomic amplification followed by direct sequencing and oligonucleotide hybridization, to demonstrate an A-to-G substitution in exon 7 (codon 291) of this gene. This mutation generates a Gly in place of Glu at amino acid 272 of the mature factor VIII protein. The mutation arose de novo in a germ cell of the patient's mother.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-2448875,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-2833855,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-2888005,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-2987704,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-2993888,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-2999980,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-3012775,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-3035554,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-3097553,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-355893,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-3683554,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-6253938,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-708713,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-7232206,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2835904-81838
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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 |
Jun
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
42
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
867-71
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:2835904-Adolescent,
pubmed-meshheading:2835904-DNA Restriction Enzymes,
pubmed-meshheading:2835904-Deoxyribonucleases, Type II Site-Specific,
pubmed-meshheading:2835904-Exons,
pubmed-meshheading:2835904-Factor VIII,
pubmed-meshheading:2835904-Female,
pubmed-meshheading:2835904-Gene Amplification,
pubmed-meshheading:2835904-Glutamine,
pubmed-meshheading:2835904-Glycine,
pubmed-meshheading:2835904-Hemophilia A,
pubmed-meshheading:2835904-Humans,
pubmed-meshheading:2835904-Male,
pubmed-meshheading:2835904-Mutation,
pubmed-meshheading:2835904-Nucleic Acid Hybridization,
pubmed-meshheading:2835904-Pedigree
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pubmed:year |
1988
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pubmed:articleTitle |
Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.
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pubmed:affiliation |
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports
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