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Congenital erythropoietic porphyria: A case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients
- Source :
- JAAD Case Reports, Vol 10, Iss, Pp 102-106 (2021), JAAD Case Reports
- Publication Year :
- 2021
- Publisher :
- Elsevier, 2021.
- Subjects :
- medicine.medical_specialty
biology
business.industry
Uroporphyrinogen III synthase
Congenital erythropoietic porphyria
uroporphyrinogen III synthase
Dermatology
Gene mutation
congenital erythropoietic porphyria
lcsh:RL1-803
CEP, congenital erythropoietic porphyria
L139R mutation
Endocrinology
Nepal
UROS, uroporphyrinogen III synthase
Internal medicine
biology.protein
medicine
lcsh:Dermatology
Case Series
business
Subjects
Details
- Language :
- English
- ISSN :
- 23525126
- Volume :
- 10
- Database :
- OpenAIRE
- Journal :
- JAAD Case Reports
- Accession number :
- edsair.doi.dedup.....12787a247e5466e936b1aaf7504e43a7