Congenital erythropoietic porphyria: A case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients.

Bhusal, Mohan; Bhattarai, Sabina; Shah, Mahesh; Khadka, Anupa

Bhusal, Mohan; Bhattarai, Sabina; Shah, Mahesh; Khadka, Anupa.

Afiliação

Bhusal M; Nepal Plastic Cosmetic and Laser Center, Lalitpur, Nepal.
Bhattarai S; Department of Dermatology and Venereology, Kathmandu Medical College and Teaching Hospital, Kathmandu, Nepal.
Shah M; Anandaban Hospital, Lalitpur, Nepal.
Khadka A; Department of Dermatology and Venereology, Kathmandu Medical College and Teaching Hospital, Kathmandu, Nepal.

JAAD Case Rep ; 10: 102-106, 2021 Apr.

Article em En | MEDLINE | ID: mdl-33850991

Palavras-chave

CEP, congenital erythropoietic porphyria; L139R mutation; Nepal; UROS, uroporphyrinogen III synthase; congenital erythropoietic porphyria; uroporphyrinogen III synthase

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JAAD Case Rep Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Nepal

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