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cDNA Name
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c.3687C>A
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Protein Name
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p.Asn1229Lys
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Exon or Intron
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exon 22
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Other Details
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This mutation was identified on one Italian CF chromosome. The above mutation was identified by DGGE analysis and confirmed by DNA sequencing.
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Contributors and Institutes
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| Angius A. | - | Pediatria- Lab. Di Genetica Molecolare- Università degli Studi di Perugia | | Stasi M. | - | Pediatria- Lab. Di Genetica Molecolare- Università degli Studi di Perugia | | Sokol B. | - | Pediatria- Lab. Di Genetica Molecolare- Università degli Studi di Perugia | | Furbetta M. | - | Pediatria- Lab. Di Genetica Molecolare- Università degli Studi di Perugia |
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Submitted Phenotype Details
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This mutation has been found in an adult ( 40y old), Italian man studied for couple’s infertility. He had a normal semen analysis.
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Reference
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