PMID: 8601739Feb 1, 1996Paper

Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients

The Journal of Investigative Dermatology
M HenrikssonR Kauppinen

Abstract

A novel mutation was identified by direct sequencing of genomic polymerase chain reaction products in each of four Finnish erythropoietic protoporphyria families. All four mutations, including two deletions (751delGAGAA and the first de novo mutation, 1122delT) and two point mutations (286C-->T and 343C-->T), resulted in a dramatically decreased steady-state level of the allelic transcript, since none of the mutations could be demonstrated by direct sequencing of the amplified cDNAs synthesized from total RNA extracted from patients' lymphoblast cell lines. Because the assays of the ferrochelatase activity and erythrocyte protoporphyrin identify asymptomatic patients poorly, the DNA-based demonstration of a mutation is the only reliable way to screen individuals for the disease-associated mutation.

Citations

Jan 29, 2005·American Journal of Physiology. Gastrointestinal and Liver Physiology·Marie AbitbolXavier Montagutelli
May 8, 2008·The British Journal of Dermatology·M ParkerP N Meissner
Jul 27, 1999·Medizinische Klinik·M O DossI Sieg
May 18, 2012·Journal of the European Academy of Dermatology and Venereology : JEADV·F P ColomboV E Parera
Jun 25, 1998·Photodermatology, Photoimmunology & Photomedicine·D J Todd
Dec 16, 2000·Journal of Inherited Metabolic Disease·U GrossM O Doss
Jun 1, 1997·Journal of Inherited Metabolic Disease·T M Cox
Feb 16, 1999·Biochimica Et Biophysica Acta·S T Magness, D A Brenner
Sep 18, 1998·The Journal of Investigative Dermatology·L GouyaE I Minder
Nov 25, 2004·Clinics in Liver Disease·Y V ScarlettJ R Bloomer

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