Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
about
Genome-wide matching of genes to cellular roles using guilt-by-association models derived from single sample analysisMutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.An update on molecular genetics of Alkaptonuria (AKU).High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation DatabaseA Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria.Alkaptonuria in France: past experience and lessons for the future.Redox proteomics gives insights into the role of oxidative stress in alkaptonuria.
P2860
Q21199585-96A42535-BF93-478F-A767-30FA7A4EB07BQ33694024-417FA952-A831-46D4-AC63-74FCB92379CFQ34196817-9B19CC8F-314A-4B2B-B1C5-1488A50BE094Q34511167-C861A3AC-AB76-4B7C-8AD8-85888FE1267DQ36433368-6D3E0C95-CC22-457B-8162-BD3457DA23CDQ37415880-A2FFBEA6-28C0-4B8E-BB4B-99539EE0DA23Q37934608-5E26B497-ACB6-4B0C-B72B-96D972ED3B2BQ38160929-99CC1764-5938-40AE-A3D0-BD1A96B1F733
P2860
Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Analysis of alkaptonuria (AKU) ...... te 1,2 dioxygenase gene (HGO).
@en
Analysis of alkaptonuria (AKU) ...... te 1,2 dioxygenase gene (HGO).
@nl
type
label
Analysis of alkaptonuria (AKU) ...... te 1,2 dioxygenase gene (HGO).
@en
Analysis of alkaptonuria (AKU) ...... te 1,2 dioxygenase gene (HGO).
@nl
prefLabel
Analysis of alkaptonuria (AKU) ...... te 1,2 dioxygenase gene (HGO).
@en
Analysis of alkaptonuria (AKU) ...... te 1,2 dioxygenase gene (HGO).
@nl
P2093
P2860
P356
P1476
Analysis of alkaptonuria (AKU) ...... te 1,2 dioxygenase gene (HGO).
@en
P2093
Beltrán-Valero de Bernabé D
Jimenez FJ
P2860
P304
P356
10.1086/302376
P407
P577
1999-05-01T00:00:00Z