Exonic deletions as a cause of erythropoietic protoporphyria

Wood, Lisa H., Whatley, Sharon D., McKenna, Kevin and Badminton, Michael Norman 2006. Exonic deletions as a cause of erythropoietic protoporphyria. Annals of Clinical Biochemistry 43 (3) , pp. 229-232. 10.1258/000456306776865160

Full text not available from this repository.

Abstract

Erythropoietic protoporphyria (EPP) is an inherited disorder that results from partial deficiency of ferrochelatase (FECH), the terminal enzyme of haem biosynthesis. Current methods that examine the exons and their flanking regions of the FECH gene fail to identify mutations in about one in seven of families with EPP. The presence in some families of intragenic deletions that are not identifiable by current methods for sequencing the FECH gene may partly explain the low sensitivity of mutation detection in EPP. Here we describe the identification by gene dosage analysis of a deletion of exons 3 and 4 in a family with EPP in whom a mutation had not been found by sequencing-based methods.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Royal Society of Medicine
ISSN:	0004-5632
Last Modified:	06 May 2023 02:07
URI:	https://orca.cardiff.ac.uk/id/eprint/37064

Citation Data

Cited 6 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item