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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1-2
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pubmed:dateCreated |
1992-12-1
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pubmed:abstractText |
A proband homozygous for the PiZ allele of the alpha-1-antitrypsin gene was found to be a heterozygous carrier of the additional nucleotide substitution (C-T) within the intron IV-exon V junction (position 9955 in intron IV, 3 bp upstream of its 3'-splice site). This mutation was not found in DNA from either the PiZ heterozygous parents or the PiZ homozygous brother of proband.
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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:issn |
0340-6717
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
90
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pubmed:geneSymbol |
AAT
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
169-70
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:1427771-Alleles,
pubmed-meshheading:1427771-Base Sequence,
pubmed-meshheading:1427771-Child,
pubmed-meshheading:1427771-Exons,
pubmed-meshheading:1427771-Female,
pubmed-meshheading:1427771-Humans,
pubmed-meshheading:1427771-Introns,
pubmed-meshheading:1427771-Liver Cirrhosis,
pubmed-meshheading:1427771-Male,
pubmed-meshheading:1427771-Molecular Sequence Data,
pubmed-meshheading:1427771-Mutation,
pubmed-meshheading:1427771-Oligodeoxyribonucleotides,
pubmed-meshheading:1427771-Polymerase Chain Reaction,
pubmed-meshheading:1427771-alpha 1-Antitrypsin,
pubmed-meshheading:1427771-alpha 1-Antitrypsin Deficiency
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pubmed:articleTitle |
De novo mutation within the intron-exon junction in the PiZ allele of the alpha-1-antitrypsin gene.
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pubmed:affiliation |
Research Institute for Experimental Medicine, St. Petersburgh, Russia.
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pubmed:publicationType |
Journal Article,
Case Reports
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