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
DMD and BMD in the same family due to two distinct mutations
β Scribed by Morandi, L. ;Mora, M. ;Tedeschi, S. ;Blasi, C. Di ;Curcio, C. ;De Leonardis, P. ;Brugnoni, R. ;Bernasconi, P. ;Mantegazza, R. ;Confalonieri, V. ;Cornelio, F.
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 499 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0148-7299
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