The molecular basis of the uroporphyrinogen III synthase (UROIIIS) deficiency was investigated in a member of a Japanese family. This defect in heme biosynthesis is responsible for a rare autosomal recessive disease: congenital erythropoietic porphyria (CEP) or Gu Β¨nther's disease. The patient was h
Novel mutations and the emergence of a common mutation in theSDHD gene causing familial paraganglioma
β Scribed by Milunsky, Jeff M. ;Maher, Thomas A. ;Michels, Virginia V. ;Milunsky, Aubrey
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 71 KB
- Volume
- 100
- Category
- Article
- ISSN
- 0148-7299
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