SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients
✍ Scribed by L. Yin; V. Ferrand; M.-F. Lavoué; D. Hayoz; N. Philippe; G. Souillet; M. Seri; R. Giacchino; E. Castagnola; S. Hodgson; B.S. Sylla; G. Romeo
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 144 KB
- Volume
- 105
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract Recently, mutations of two genes, SAP/SH2D1A/DSHP and perforin genes, have been identified in two fatal inherited lymphoproliferative diseases, X‐linked lymphoproliferative disease and familial hemophagocytic lymphohistiocytosis, respectively. Epstein‐Barr virus (EBV)‐associated hemopha
Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. To date, seven types of OI have been described, based on clinical phenotype and histological findings. Most patients with a clin
The new, extremely potent and enantioselective D-2 agonist LY 163502 failed to induce compulsive stereotyped behaviour. Very low doses (3-6 gg/kg) inhibited spontaneous sniffing and locomotion, while higher doses (12-50 gg/kg)induced episodes of non-stereotyped sniffing and chewing; these actions sh