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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2005-12-6
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pubmed:abstractText |
We identified five disease-causing mutations in six factor XIII deficient patients from four unrelated families: two novel nonsense mutations (nucleotide 979C-->T corresponding to Arg326Stop; and nucleotide 2075G-->A corresponding to Trp691 Stop), one novel deletion of a single nucleotide (nucleotide 708G or 709G), one previously reported missense mutation (nucleotide 888C-->G corresponding to Ser295Arg), and a previously reported splice site mutation (nucleotide 319G-->T at the last position of exon 3). The phenotypic consequences of these mutations are discussed.
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pubmed:grant |
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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 |
Dec
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pubmed:issn |
1592-8721
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
90
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1718-20
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pubmed:dateRevised |
2007-8-13
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pubmed:meshHeading |
pubmed-meshheading:16330458-Adolescent,
pubmed-meshheading:16330458-Adult,
pubmed-meshheading:16330458-Amino Acid Substitution,
pubmed-meshheading:16330458-Child,
pubmed-meshheading:16330458-Child, Preschool,
pubmed-meshheading:16330458-Codon,
pubmed-meshheading:16330458-Codon, Nonsense,
pubmed-meshheading:16330458-Factor XIII,
pubmed-meshheading:16330458-Factor XIII Deficiency,
pubmed-meshheading:16330458-Female,
pubmed-meshheading:16330458-Genotype,
pubmed-meshheading:16330458-Humans,
pubmed-meshheading:16330458-Male,
pubmed-meshheading:16330458-Mutation, Missense,
pubmed-meshheading:16330458-Phenotype,
pubmed-meshheading:16330458-Point Mutation,
pubmed-meshheading:16330458-Protein Structure, Tertiary,
pubmed-meshheading:16330458-RNA Splice Sites,
pubmed-meshheading:16330458-Sequence Deletion
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pubmed:year |
2005
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pubmed:articleTitle |
Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene.
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pubmed:publicationType |
Letter,
Research Support, Non-U.S. Gov't
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