Mutation Details for c.273+42A>G
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cDNA Name
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c.273+42A>G
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Exon or Intron
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intron 3
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Legacy Exon or Intron
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intron 3
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405+42A/G
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Other Details
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The G variant was found by DGGE and identified by DNA sequencing in an individual from Estonia heterozygous for S1235R. The new sequence does not modify any known restriction site.
M. Teder and K Kaasik
Institut of Cell and Molecular Biology
Tartu University, Laboratory of Biotechnology
RIA 23, Tartu, Estonia
Fax: 372 7 420 248
Tel: 372 7 420 210
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Contributors
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Teder M,
Kaasik K,
Guittard C,
Claustres M
1997-12-09
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Institute
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Tartu University
Tartu, Estonia
Institut de Biologie
Montpellier, France
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Submitted Phenotype Details
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405+42A/G was found in an Estonian individual also carrying S1235R. (pers. corr. Claustres)
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Reference
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Teder et al. (NL#70)
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