Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyria and Harderoporphyria-Reference-Cited by-同舟云学术

Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyria and Harderoporphyria

Published:2001-05 Issue:5 Volume:68 Page:1130-1138
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Lamoril Jérôme,Puy Hervé,Whatley Sharon D.,Martin Caroline,Woolf Jacqueline R.,Da Silva Vasco,Deybach Jean-Charles,Elder George H.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference41 articles.

1. Hereditary coproporphyria: incidence in a large English family;Andrews;J Med Genet,1984

2. Fecal coproporphyrin isomers in hereditary coproporphyria;Blake;Clin Chem,1992

3. Hereditary coproporphyria: demonstration of the abnormalities in haem biosynthesis in peripheral blood;Brodie;Q J Med,1977

4. Human gene mutation;Cooper,1993

5. RNA surveillance: unforeseen consequences for gene expression, inherited genetic disorders and cancer;Culbertson;Trends Genet,1999

Cited by 53 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. The Hepatic Porphyrias: Revealing the Complexities of a Rare Disease;Seminars in Liver Disease;2023-11

2. BALB.NCT-Cpox is a unique mouse model of hereditary coproporphyria;Molecular Genetics and Metabolism Reports;2023-06

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

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

5. International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias;Genetics in Medicine;2019-11