Publications:

A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.

Italian Journal Of Pediatrics

Vafaee-Shahi, Mohammad M; Ghasemi, Saeide S; Riahi, Aina A; Sadr, Zahra Z

Publication Date: 2022-02-14

Variant appearance in text: PPOX: D349A

PubMed Link: 35164799

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• 13052_2022_Article_1215.pdf

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A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.

Italian Journal Of Pediatrics

Vafaee-Shahi, Mohammad M; Ghasemi, Saeide S; Riahi, Aina A; Sadr, Zahra Z

Publication Date: 2022-02-14

Variant appearance in text: PPOX: D349A

PubMed Link: 35164799

Variant Present in the following documents:

• Main text
• 13052_2022_Article_1215.pdf

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Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.

Molecular Genetics And Metabolism

Yasuda, Makiko M; Chen, Brenden B; Desnick, Robert J RJ

Publication Date: 2019-11

Variant appearance in text: PPOX: D349A

PubMed Link: 30594473

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Quantitative structural insight into human variegate porphyria disease.

The Journal Of Biological Chemistry

Wang, Baifan B; Wen, Xin X; Qin, Xiaohong X; Wang, Zhifang Z; Tan, Ying Y; Shen, Yuequan Y; Xi, Zhen Z

Publication Date: 2013-04-26

Variant appearance in text: PPO: D349A

PubMed Link: 23467411

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montalcino, A zebrafish model for variegate porphyria.

Experimental Hematology

Dooley, Kimberly A KA; Fraenkel, Paula G PG; Langer, Nathaniel B NB; Schmid, Bettina B; Davidson, Alan J AJ; Weber, Gerhard G; Chiang, Ken K; Foott, Helen H; Dwyer, Caitlin C; Wingert, Rebecca A RA; Zhou, Yi Y; Paw, Barry H BH; Zon, Leonard I LI; ,

Publication Date: 2008-09

Variant appearance in text: PPOX: D349A

PubMed Link: 18550261

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