Screening of three Mediterranean phenylketonuria mutations in Tunisian families
✍ Scribed by KHEMIR, SAMEH; SIALA, HAJER; TAIEB, SAMEH HADJ; CHERIF, WAFA; AZZOUZ, HATEM; KÉFI, RYM; ABDELHAK, SONIA; KHOUJA, NAZIHA; TEBIB, NEJI; MASSAOUD, TAIEB; DRIDI, MARIE FRANÇOISE BEN; KAABACHI, NAZIHA
- Book ID
- 113094280
- Publisher
- Indian Academy of Sciences
- Year
- 2012
- Tongue
- English
- Weight
- 541 KB
- Volume
- 91
- Category
- Article
- ISSN
- 0022-1333
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We have screened seven Spanish phenylketonuric (PKU) families for the most prevalent Mediterranean and Caucasian mutations, and have subsequently found mutations P281L and IVS10. We have analyzed these two mutations in 23 of our patients. The frequencies found correspond to those of Mediterranean co
Familial Mediterranean fever is an autosomal recessive disorder characterised by episodic fever, abdominal and pleuritic pain, serositis and arthritis. The FMF gene (MEFV) has been mapped to chromosome 16p13.3 and generates a protein found exclusively in granulocytes. Seventeen mutations have been r