Journal article
A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria
Abstract
BACKGROUND: Erythropoietic protoporphyria (EPP) is known to be inherited in both autosomal dominant and recessive manners. A deleterious mutation in conjunction with a polymorphic wild type allele underlies the molecular basis of the dominant type.
METHODS: We report a patient with EPP who was found to have a novel large deletion [c.1-9628_67+2871del12566 bp] and three polymorphisms [c.1-251A>G, c.68-23C>T and c.315-48T>C] in trans to the …
Authors
Li C; Di Pierro E; Brancaleoni V; Cappellini MD; Steensma DP
Journal
Clinical Chemistry and Laboratory Medicine, Vol. 47, No. 1, pp. 44–46
Publisher
De Gruyter
Publication Date
2009
DOI
10.1515/cclm.2009.010
ISSN
1434-6621