Gene Dosage Analysis Identifies Large Deletions of the FECH Gene in 10% of Families with Erythropoietic Protoporphyria-Reference-Cited by-同舟云学术

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Gene Dosage Analysis Identifies Large Deletions of the FECH Gene in 10% of Families with Erythropoietic Protoporphyria

Published:2007-12 Issue:12 Volume:127 Page:2790-2794
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Whatley Sharon D.,Mason Nicola G.,Alexander Holme S.,Anstey Alex V.,Elder George H.,Badminton Michael N.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference27 articles.

1. Gross deletions and translocations in human genetic disease;Abeysinghe,2006

2. Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria;Aurizi;Mol Genet Metab,2007

3. Breakpoints of gross deletions coincide with non-B DNA conformations;Bacolla;Proc Natl Acad Sci USA,2004

4. Translocation and gross deletion breakpoints in human inherited disease and cancer II: potential involvement of repetitive sequence elements in secondary structure formation between DNA ends;Chuzhanova;Hum Mutat,2003

5. Microcytic anaemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein-2;Cooperman;Blood,2006

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