Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping
about
Structural basis of hereditary coproporphyria.Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.Molecular aspects of the inherited porphyriasHarderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327RExamination of mitochondrial protein targeting of haem synthetic enzymes: in vivo identification of three functional haem-responsive motifs in 5-aminolaevulinate synthaseSystematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation updateCloning, expression, and biochemical properties of CPOX4, a genetic variant of coproporphyrinogen oxidase that affects susceptibility to mercury toxicity in humansUroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene.Review: molecular pathogenesis of hepatic acute porphyrias.Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria.
P2860
Q24336099-D4D7C2F6-D11C-4840-BA1A-67867F21E3ACQ24533469-388F81CF-0BEA-4DA6-9224-1930B60B50B8Q28145498-A2FB0F58-DA76-4974-8F76-F5705FA87BD6Q28299154-B9F17A7B-410D-49CB-BEF6-3F36CC3B929BQ28589533-68D6B521-1A19-44D4-BA5F-8650177A4532Q29031910-50ED55E4-9043-4211-95D3-309399B66B1BQ37196695-CF20AACD-0A03-4FCC-9E94-A1087DCF4A2BQ38316319-0064F9DA-CC26-4E95-8D49-F8CCB0DB676AQ41294557-42BD5381-20F4-4941-9B13-68A8D10A8729Q49348054-32A292B5-003C-4335-AD79-FF1E9AFACB2B
P2860
Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping
description
1994 nî lūn-bûn
@nan
1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Coproporphyrinogen oxidase: ge ...... ion leading to exon 6 skipping
@ast
Coproporphyrinogen oxidase: ge ...... ion leading to exon 6 skipping
@en
Coproporphyrinogen oxidase: ge ...... ion leading to exon 6 skipping
@nl
type
label
Coproporphyrinogen oxidase: ge ...... ion leading to exon 6 skipping
@ast
Coproporphyrinogen oxidase: ge ...... ion leading to exon 6 skipping
@en
Coproporphyrinogen oxidase: ge ...... ion leading to exon 6 skipping
@nl
prefLabel
Coproporphyrinogen oxidase: ge ...... ion leading to exon 6 skipping
@ast
Coproporphyrinogen oxidase: ge ...... ion leading to exon 6 skipping
@en
Coproporphyrinogen oxidase: ge ...... ion leading to exon 6 skipping
@nl
P356
P1476
Coproporphyrinogen oxidase: ge ...... ion leading to exon 6 skipping
@en
P2093
B Grandchamp
M H Delfau-Larue
P304
P356
10.1093/HMG/3.8.1325
P407
P577
1994-08-01T00:00:00Z