Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which le
PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: Role of PYPAF1 in inflammation
✍ Scribed by I. Jéru; H. Hayrapetyan; P. Duquesnoy; T. Sarkisian; S. Amselem
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 287 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0004-3591
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract ## Objective Familial cold urticaria (FCU) and Muckle‐Wells syndrome (MWS) are dominantly inherited autoinflammatory disorders that cause rashes, fever, arthralgia, and in some subjects, AA amyloidosis, and have been mapped to chromosome 1q44. Sensorineural deafness in MWS, and provoca
## Abstract ## BACKGROUND The retinoic acid (RA)–catabolizing enzyme Cyp26a1 plays an important role in protecting tailbud tissues from inappropriate exposure to RA. __Cyp26a1__‐null animals exhibit caudal agenesis and spina bifida, imperforate anus, agenesis of the caudal portions of the digestiv
## Abstract ## Objective To define the frequency of the R92Q tumor necrosis factor receptor–associated periodic syndrome (TRAPS) mutation in patients with familial Mediterranean fever (FMF) and to study the role of this mutation in FMF. ## Methods Ninety‐two FMF patients and 250 controls were ge