Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria

Journal of Investigative Dermatology

Volumn 127, Issue 12, 2007, Pages 2790-2794

  Whatley, Sharon D ^a   Mason, Nicola G ^a   Holme, S Alexander ^b   Anstey, Alex V ^c   Elder, George H ^a   Badminton, Michael N ^a  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^b QUEEN MARGARET HOSPITAL   (United Kingdom)

^c CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FERROCHELATASE; PROTOPORPHYRIN;

ARTICLE; CLINICAL ARTICLE; CONGENITAL ERYTHROPOIETIC PORPHYRIA; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; GENE DELETION; GENE DOSAGE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 36248996414     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700924     Document Type: Article

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