Three Swedish families with porphyria variegata.
نویسندگان
چکیده
منابع مشابه
Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects.
A woman aged 54 was studied because of a severe acute porphyric (neurologic) relapse with clinical and chemical findings characteristic of porphyria variegata. During a family survey, her brother, aged 59, was found to have chemical abnormalities typical of porphyria cutanea tarda, without suggestion of neurologic manifestations. He had mild skin changes compatible with either of these forms of...
متن کاملPorphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects (addendum).
A porphyria kindred in which the index case has porphyria variegata had also been shown to include a case of porphyria cutanea tarda, typical both from chemical and clinical features. The possibility that this was purely acquired rather than genetic seemed unlikely, but could not be wholly excluded. Recently, a niece of both of these cases, although asymptomatic, has been found to conform chemi...
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781 National Tax Journal Vol. LIX, No. 4 December 2006 Abstract We examine the effect of the Earned Income Tax Credit (EITC) on labor supply, comparing outcomes in Wisconsin, which supplements the federal EITC for families with three children, to outcomes in states that do not supplement the federal EITC. Relative to previous studies, our cross–state comparison examines a larger difference in E...
متن کاملIdentification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.
Mutation analysis of genomic DNA samples obtained from 17 unrelated South African patients with variegate porphyria (VP) revealed three novel missense mutations in the protoporphyrinogen oxidase (PPOX) gene. A common C to T transition at nucleotide position 452 (R59W) was identified in 15 of the patients analysed, while base changes at positions 336 (H20P) and 779 (R168C) were identified in the...
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Anticipation describes an inheritance pattern within a pedigree with an increase in disease severity or decrease in age at onset or both in successive generations. The phenomenon of anticipation has recently been shown to be correlated with the expansion of trinucleotide repeat sequences in different disorders. We have studied differences of age at onset and disease severity between two generat...
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ژورنال
عنوان ژورنال: BMJ
سال: 1967
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.4.5577.449