Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient
about
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type INovel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathwayPoint mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1Fungal metabolic model for human type I hereditary tyrosinaemia.Hereditary tyrosinaemia type I: from basics to progress in treatment.Mechanisms of liver injury relevant to pediatric hepatology.Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors.Validation of a multi-omics strategy for prioritizing personalized candidate driver genesClinical and para clinical findings in the children with tyrosinemia referring for liver transplantation.Therapeutic applications of dichloroacetate and the role of glutathione transferase zeta-1.Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.Heat shock response associated with hepatocarcinogenesis in a murine model of hereditary tyrosinemia type I.Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.Molecular Aspects of the FAH Mutations Involved in HT1 Disease.CDC5L drives FAH expression to promote metabolic reprogramming in melanoma.Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1.
P2860
Q24672565-90E68ADA-F9A1-4BA6-89CF-EEADBABE745CQ24672848-457442C3-38B9-4C4E-BA28-24FB5BA375C5Q28119001-5A0896FE-ADAF-4EAD-8B00-379B8F1D231AQ28510201-3AE5B12D-C04A-4B4E-AEBE-7CC5A3AF813BQ33887444-E000D5AD-2DC7-4759-97CE-41D43F8DF3FCQ34111877-978B0A29-9937-4A0A-808B-169F914C8A3DQ34559789-08EDC73B-1273-40CD-9C09-EF37C35D9BC7Q35848690-4E872469-7E26-4364-9DC6-219804E129D9Q36266189-3A65DAEF-1AAD-4A08-B422-9DD2766F9124Q37437532-E22BD1E7-888E-4E2F-A825-02398482C07AQ37503025-BF078BF6-2943-4E92-A391-9E7E8485822CQ38988403-ACBEAF3B-A2E8-4B35-942B-A4D5FD7DFE73Q40817093-D27A3E31-B793-4056-AB93-73707E2B862AQ41457848-90B64F82-2B1E-432A-A09F-92D401BCEFEAQ42557586-7C89911E-1216-48D3-95D1-9411C7396CDCQ48014395-F79075AD-B4D6-4A83-8B71-B10186DE1660Q49476830-9DB43DCD-C43F-4BB1-9CFD-D8ABE2A8F697Q51817721-2210C422-3AD7-4D8B-A5A9-EA3982E3A9E8
P2860
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient
description
1992 nî lūn-bûn
@nan
1992 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Type 1 hereditary tyrosinemia. ...... n in a French Canadian patient
@ast
Type 1 hereditary tyrosinemia. ...... n in a French Canadian patient
@en
Type 1 hereditary tyrosinemia. ...... n in a French Canadian patient
@nl
type
label
Type 1 hereditary tyrosinemia. ...... n in a French Canadian patient
@ast
Type 1 hereditary tyrosinemia. ...... n in a French Canadian patient
@en
Type 1 hereditary tyrosinemia. ...... n in a French Canadian patient
@nl
prefLabel
Type 1 hereditary tyrosinemia. ...... n in a French Canadian patient
@ast
Type 1 hereditary tyrosinemia. ...... n in a French Canadian patient
@en
Type 1 hereditary tyrosinemia. ...... n in a French Canadian patient
@nl
P2093
P2860
P3181
P356
P1476
Type 1 hereditary tyrosinemia. ...... n in a French Canadian patient
@en
P2093
G Mitchell
R Laframboise
R M Tanguay
P2860
P304
P3181
P356
10.1172/JCI115979
P407
P577
1992-10-01T00:00:00Z