Gastrointestinal Angiodysplasia in a Patient with Type 2 von Willebrand's Disease and Analysis of Exon 28 of the von Willebrand Factor Gene
| ISSN: | 1572-0241 0002-9270 |
|---|---|
| DOI: | 10.1111/j.1572-0241.2004.40459.x |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b3a476cd4fa8a8d0275475700a8fb9a https://doi.org/10.1111/j.1572-0241.2004.40459.x |
| Přírůstkové číslo: | edsair.doi.dedup.....3b3a476cd4fa8a8d0275475700a8fb9a |
| Autor: | Youichi Sakata, Yukihiro Satoh, Kentaro Sugano, Kiichi Satoh, Hiroto Kita, Hiroyuki Mutoh, Ken Kihira, Kenichi Ido, Hiroyuki Osawa |
| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Gastrointestinal Diseases Mutation Missense Disease medicine.disease_cause Angiodysplasia Exon hemic and lymphatic diseases Coagulopathy medicine Humans Missense mutation Mutation Hepatology business.industry Point mutation Gastroenterology Exons medicine.disease Pedigree von Willebrand Diseases medicine.anatomical_structure Duodenum business circulatory and respiratory physiology |
| Zdroj: | The American Journal of Gastroenterology. 99:2495-2498 |
| ISSN: | 1572-0241 0002-9270 |
| DOI: | 10.1111/j.1572-0241.2004.40459.x |
| Popis: | Although the association between gastrointestinal angiodysplasia and von Willebrand's disease has been suggested, molecular mechanisms involved in the formation of angiodysplasia in patients with von Willebrand's disease remained undetermined. We examined exon 28 of the von Willebrand factor gene in a patient with both von Willebrand's disease and recurrent bleeding from angiodysplasia in the duodenum as well as his father's, and found a point mutation, C 3916-->T (amino acid substitution; Arg 543-->Trp), in the A1 domain of the von Willebrand factor gene. This mutation was identical with a previously reported mutation in a patient with von Willebrand's disease complicated with gastrointestinal angiodysplasia. |
| Databáze: | OpenAIRE |
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