We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein. The mutation was identified by nucleotide sequencing and confirmed by restriction enzyme diges
Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation
โ Scribed by Masmoudi, Saber; Charfedine, Ilhem; Hmani, Mounira; Grati, M'hamed; Ghorbel, Abdel Monem; Elgaied-Boulila, Amel; Drira, Mohamed; Hardelin, Jean-Pierre; Ayadi, Hammadi
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 58 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000103)90:1<38::aid-ajmg8>3.0.co;2-r
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