Mutation Details for c.1116+52T>C
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cDNA Name
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c.1116+52T>C
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Exon or Intron
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intron 8
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Legacy Exon or Intron
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intron 7
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1248+52T/C
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Other Details
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The above sequence alteration was detected by SSCP analysis and identified by direct sequencing. It was found in one French patient as a result of a collaborative study between the Laboratory of Molecular Pathology in Sofia, Bulgaria and Laboratoire de Biochimie Génétique, Montpellier, France.
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Contributors
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Jordanova A,
Kalaydjieva L,
Claustres M
1996-08-21
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Institute
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Laboratory of Molecular Pathology,
Sofia, Bulgaria
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Submitted Phenotype Details
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1248+52T/C is considered to be a polymorphism. (pers. corr. Claustres)
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Reference
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Jordanova et al. (NL#69)
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