High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
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Ochronosis as an unusual cause of valvular defect: a case reportOn the ocular findings in ochronosis: a systematic review of literatureMutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.Genetics and genomic medicine in SlovakiaAortic valve ochronosis: a rare manifestation of alkaptonuriaIdentification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation DatabaseMultiple Arthroplasty in a Patient with Alkaptonuric Arthritis.Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.Alkaptonuria: A Case of Familial Inheritance from Hangarki Village in Dharwad District of KarnatakaAlkaptonuria in a middle-aged female.Endogenous ochronosis: case report and a systematic review of the literature.Redox proteomics gives insights into the role of oxidative stress in alkaptonuria.Alkaptonuria, more than just a mere disease.Total hip replacement for an ochronotic patient: A technical trick.A simplified staging system based on the radiological findings in different stages of ochronotic spondyloarthropathy.Rapid detection methods for five HGO gene mutations causing alkaptonuria.R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.Three-generational alkaptonuria in a non-consanguineous family.
P2860
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P2860
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
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2000 nî lūn-bûn
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2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
High frequency of alkaptonuria ...... ifferent mutational hot spots.
@ast
High frequency of alkaptonuria ...... ifferent mutational hot spots.
@en
High frequency of alkaptonuria ...... ifferent mutational hot spots.
@nl
type
label
High frequency of alkaptonuria ...... ifferent mutational hot spots.
@ast
High frequency of alkaptonuria ...... ifferent mutational hot spots.
@en
High frequency of alkaptonuria ...... ifferent mutational hot spots.
@nl
prefLabel
High frequency of alkaptonuria ...... ifferent mutational hot spots.
@ast
High frequency of alkaptonuria ...... ifferent mutational hot spots.
@en
High frequency of alkaptonuria ...... ifferent mutational hot spots.
@nl
P2093
P2860
P356
P1476
High frequency of alkaptonuria ...... ifferent mutational hot spots.
@en
P2093
Feráková E
Poláková H
de Bernabé DB
de Córdoba SR
P2860
P304
P356
10.1086/321209
P407
P577
2000-10-02T00:00:00Z