Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias

Author:

Gouya Laurent,Puy Hervé,Robreau Anne-Marie,Lyoumi Said,Lamoril Jérome,Da Silva Vasco,Grandchamp Bernard,Deybach Jean-Charles

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Cited by 37 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Inherited Porphyrias;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021

2. Two new mutations in the PPOX gene in a patient with variegate porphyria;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2020-04

3. Molecular analysis of 19 Spanish patients with mixed porphyrias;European Journal of Medical Genetics;2019-12

4. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes;Molecular Genetics and Metabolism;2019-11

5. PILOT RESEARCH OF A GENETIC PREDISPOSITION FOR CLINICAL MANIFESTATIONS OF ACUTE INTERMITTENT PORPHYRIA;Russian journal of hematology and transfusiology;2019-10-04

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