Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in theRFX5gene
✍ Scribed by A. Peijnenburg; Marja C. J. A. Van Eggermond; R. Van den Berg; Özden Sanal; Jaak M. J. J. Vossen; P. J. Van den Elsen
- Publisher
- Springer-Verlag
- Year
- 1999
- Tongue
- English
- Weight
- 242 KB
- Volume
- 49
- Category
- Article
- ISSN
- 0093-7711
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Communicated by Henrik Dahl MHC class II deficiency is a severe primary immunodeficiency characterised by the absence of major histocompatibility complex class II (MHC-II) gene expression. It is genetically heterogeneous and can result from defects in at least four different trans-acting regula
Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from