Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.
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Genetic and biochemical studies in Argentinean patients with variegate porphyriaVariegate porphyria in Western Australian Aboriginal patients.Dual porphyrias revisited.Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.
P2860
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P2860
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Identification of a founder mu ...... porphyria patients from chile.
@ast
Identification of a founder mu ...... porphyria patients from chile.
@en
type
label
Identification of a founder mu ...... porphyria patients from chile.
@ast
Identification of a founder mu ...... porphyria patients from chile.
@en
prefLabel
Identification of a founder mu ...... porphyria patients from chile.
@ast
Identification of a founder mu ...... porphyria patients from chile.
@en
P2093
P356
P1433
P1476
Identification of a founder mu ...... porphyria patients from chile.
@en
P2093
P304
P356
10.1159/000053337
P577
2001-01-01T00:00:00Z