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Titolo:
Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene
Autore:
Palmer, RA; Elder, GH; Barrett, DF; Keohane, SG;
Indirizzi:
St Marys Hosp, Dept Dermatol, Portsmouth PO3 6AD, Hants, England St Marys Hosp Portsmouth Hants England PO3 6AD th PO3 6AD, Hants, England Univ Wales Coll Med, Dept Med Biochem, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Med Cardiff S Glam Wales CF14 4XN CF14 4XN, S Glam, Wales
Titolo Testata:
BRITISH JOURNAL OF DERMATOLOGY
fascicolo: 4, volume: 144, anno: 2001,
pagine: 866 - 869
SICI:
0007-0963(200104)144:4<866:HVPACH>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIES;
Keywords:
homozygous variegate porphyria; protoporphyrinogen oxidase; variegate porphyria;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
16
Recensione:
Indirizzi per estratti:
Indirizzo: Palmer, RA St Marys Hosp, Dept Dermatol, Portsmouth PO3 6AD, Hants, England St Marys Hosp Portsmouth Hants England PO3 6AD Hants, England
Citazione:
R.A. Palmer et al., "Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene", BR J DERM, 144(4), 2001, pp. 866-869

Abstract

Homozygous variegate porphyria results from mutations in both alleles of the protoporphyrinogen oxidase (PPOX) gene. Our patient, a 36-year-old woman, has severe cutaneous manifestations. Her clinical and biochemical features are similar to the few other reported cases, including onset before 18 months of age, photosensitivity, absence of acute porphyric attacks, and elevated erythrocyte protoporphyrin. Mutation analysis of the PPOX gene revealed an in-frame 12 bp insert (c. 657-658 ins AAGGCCAGCGCC) encoding lysine-alanine-serine-alanine (KASA), and a G to A transition at the splice donor site of exon 11 (TVS 11-1 G-->A). Neither of these mutations has been reported previously Our patient's mother has the spice site mutation and has had acute porphyric episodes. A maternal first cousin has the same mutation but no clinical manifestations. The medical and family history of our patient'sfather is uncertain.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 11:43:13