Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda

Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda

Item
http://www.wikidata.org/entity/Q24618277
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutationUroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyriaIdentification of amino acid changes affecting yeast uroporphyrinogen decarboxylase activity by sequence analysis of hem12 mutant allelesScreening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCTA mouse model of familial porphyria cutanea tardaMouse uroporphyrinogen decarboxylase: cDNA cloning, expression, and mappingPorphyria cutanea tarda.Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagenPorphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Molecular genetics of disorders of haem biosynthesisThe porphyrias: a brief overview based on 25 years of experience (1969-1994) by the Department of Dermatology of the Hospital Clinic and Faculty of Medicine of Barcelona, Spain.Allogeneic corneoscleral limbus tissue transplantation for treatment of the necrosis in porphyria eye disease.Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient.Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda.
P2860

Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda

Item
http://www.wikidata.org/entity/Q24618277
description
1990 nî lūn-bûn
@nan
1990 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Uroporphyrinogen decarboxylase ...... s with porphyria cutanea tarda
@ast
Uroporphyrinogen decarboxylase ...... s with porphyria cutanea tarda
@en
Uroporphyrinogen decarboxylase ...... s with porphyria cutanea tarda
@nl
type
label
Uroporphyrinogen decarboxylase ...... s with porphyria cutanea tarda
@ast
Uroporphyrinogen decarboxylase ...... s with porphyria cutanea tarda
@en
Uroporphyrinogen decarboxylase ...... s with porphyria cutanea tarda
@nl
prefLabel
Uroporphyrinogen decarboxylase ...... s with porphyria cutanea tarda
@ast
Uroporphyrinogen decarboxylase ...... s with porphyria cutanea tarda
@en
Uroporphyrinogen decarboxylase ...... s with porphyria cutanea tarda
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Uroporphyrinogen decarboxylase ...... s with porphyria cutanea tarda
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932