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
The Clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients
โ Scribed by Dr. Masaki Ikeda; Vikram Sharma; S. Mark Sumi; Ekaterina A. Rogaeva; Parvoneh Poorkaj; Robin Sherrington; Linda Nee; Takehide Tsuda; Nobuhito Oda; Mitsunori Watanabe; Masashi Aoki; Mikio Shoji; Koji Abe; Yasuto Itoymia; Shurisaku Hirai; Gerard D. Schellenberg; Thomas D. Bird; P. H. St George-Hyslop
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 590 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0364-5134
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