التفاصيل البيبلوغرافية
| العنوان: |
Analysis of the CTNS gene in 32 cystinosis patients from Spain. |
| المؤلفون: |
Macías-Vidal, J., Rodés, M., Hernández-Pérez, J. M., Vilaseca, M. A., Coll, M. J. |
| المصدر: |
Clinical Genetics; Nov2009, Vol. 76 Issue 5, p486-489, 4p, 2 Charts |
| مصطلحات موضوعية: |
CYSTINOSIS, RENAL tubular transport disorders, KIDNEY diseases, MOROCCANS, PATIENTS, DISEASES |
| مصطلحات جغرافية: |
SPAIN |
| مستخلص: |
The article discusses a report that presents unrelated cystinosis patients who are 27 Spanish and 5 Moroccan. It is stated that cystinosis is an autosomal recessive disorder characterized by intralysosomal accumulation of cystine due to an impaired transport of free cystine out of lysosomes.It is mentioned that the most of our patients present the infantile nephropathic clinical form. |
| قاعدة البيانات: |
Complementary Index |
