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
β¦ LIBER β¦
The spectrum of retinal phenotypes caused by mutations in theABCA4gene
β Scribed by B. Jeroen Klevering; August F. Deutman; Alessandra Maugeri; Frans P. M. Cremers; Carel B. Hoyng
- Publisher
- Springer-Verlag
- Year
- 2004
- Tongue
- English
- Weight
- 264 KB
- Volume
- 243
- Category
- Article
- ISSN
- 0065-6100
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