Chain-terminating germline APC mutations are responsible for adenomatous polyposis coli (APC). In the present work, we tested the hypothesis that germline APC mutations may be present in some patients with a milder phenotype, i.e., multiple synchronous colorectal adenomas. Eighteen patients with 3 o
✦ LIBER ✦
Germline brca2 sequence variants in patients with ocular melanoma
✍ Scribed by Olga M. Sinilnikova; Kathleen M. Egan; Jennifer L. Quinn; Laetitia Boutrand; Gilbert M. Lenoir; Dominique Stoppa-Lyonnet; Laurence Desjardins; Christine Levy; David Goldgar; Evangelos S. Gragoudas
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- French
- Weight
- 75 KB
- Volume
- 82
- Category
- Article
- ISSN
- 0020-7136
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The gene encoding the human fatty aldehyde dehydrogenase (FALDH) is located on 17p11.2, causing Sjögren-Larsson syndrome (SLS) when mutated. SLS is an autosomal recessive disorder characterized by a combination of mental retardation, congenital ichthyosis, and spastic di-or tetraplegia. We report he