Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria

scientific article

Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode1986Sci...234..732D
P356DOI10.1126/SCIENCE.3775362
P698PubMed publication ID3775362

P2093author name stringY Nordmann
B Grandchamp
H de Verneuil
C Beaumont
C Picat
P433issue4777
P407language of work or nameEnglishQ1860
P921main subjectporphyriaQ271759
P304page(s)732-4
P577publication date1986-11-07
P1433published inScienceQ192864
P1476titleUroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria
P478volume234

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cites work (P2860)
Q52185978A Porphyrin Pathway Impairment Is Responsible for the Phenotype of a Dominant Disease Lesion Mimic Mutant of Maize
Q28507743A mouse model of familial porphyria cutanea tarda
Q28288050A zebrafish model for hepatoerythropoietic porphyria
Q28118865Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria
Q39666101Diagnosis of genetic disease using recombinant DNA. Supplement
Q24539508Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles
Q45954724Familial porphyria cutanea tarda in Spain: Characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation
Q27636360Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase
Q69740094Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects
Q35960831Hepatic porphyrias.
Q34974542Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation
Q33681928Heterogeneity of familial porphyria cutanea tarda.
Q34942588Human hereditary hepatic porphyrias
Q28302834Identification of a new mutation responsible for hepatoerythropoietic porphyria
Q27931002Identification of amino acid changes affecting yeast uroporphyrinogen decarboxylase activity by sequence analysis of hem12 mutant alleles
Q37697854Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency
Q37576665Liver in disorders of porphyrin metabolism
Q39624267Molecular genetics of disorders of haem biosynthesis
Q37782849Molecular genetics of porphyrias
Q24678243Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease
Q34649898Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene
Q28590365Mouse uroporphyrinogen decarboxylase: cDNA cloning, expression, and mapping
Q36267789Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias
Q37801101Porphyria cutanea tarda – When skin meets liver
Q69912015Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda
Q28567844Rat uroporphyrinogen decarboxylase cDNA: nucleotide sequence and comparison to human uroporphyrinogen decarboxylase
Q40389015Rat uroporphyrinogen decarboxylase cDNA: nucleotide sequence and comparison to human uroporphyrinogen decarboxylase.
Q28143875Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT
Q35245721Steady-state levels of uroporphyrinogen decarboxylase mRNA in lymphoblastoid cell lines from patients with familial porphyria cutanea tarda and their relatives
Q24633161Structure of the gene for human uroporphyrinogen decarboxylase
Q28296311The CpG dinucleotide and human genetic disease
Q41985126The effects in vivo of mutationally modified uroporphyrinogen decarboxylase in different hem12 mutants of baker's yeast (Saccharomyces cerevisiae).
Q72910854The porphyrias
Q74534450The porphyrias
Q40433950Uroporphyrinogen decarboxylase
Q24618277Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda
Q26796338Zebrafish: an important tool for liver disease research

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