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Literature DB >> 10970188

Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria.

A Zatková, H Polaková, L Micutková, M Zvarík, V Bosák, E Feráková, J Matusek, V Ferák, L Kádasi.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2000 PMID： 10970188 PMCID： PMC1734640 DOI： 10.1136/jmg.37.7.539

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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7 in total

1. Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

Authors: Andrea Zatkova; Tatiana Sedlackova; Jan Radvansky; Helena Polakova; Martina Nemethova; Robert Aquaron; Ismail Dursun; Jeannette L Usher; Ludevit Kadasi
Journal: JIMD Rep Date: 2011-10-20

2. An update on molecular genetics of Alkaptonuria (AKU).

Authors: Andrea Zatkova
Journal: J Inherit Metab Dis Date: 2011-07-01 Impact factor: 4.982

3. Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.

Authors: Martina Nemethova; Jan Radvanszky; Ludevit Kadasi; David B Ascher; Douglas E V Pires; Tom L Blundell; Berardino Porfirio; Alessandro Mannoni; Annalisa Santucci; Lia Milucci; Silvia Sestini; Gianfranco Biolcati; Fiammetta Sorge; Caterina Aurizi; Robert Aquaron; Mohammed Alsbou; Charles Marques Lourenço; Kanakasabapathi Ramadevi; Lakshminarayan R Ranganath; James A Gallagher; Christa van Kan; Anthony K Hall; Birgitta Olsson; Nicolas Sireau; Hana Ayoob; Oliver G Timmis; Kim-Hanh Le Quan Sang; Federica Genovese; Richard Imrich; Jozef Rovensky; Rangan Srinivasaraghavan; Shruthi K Bharadwaj; Ronen Spiegel; Andrea Zatkova
Journal: Eur J Hum Genet Date: 2015-03-25 Impact factor: 4.246

4. High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.

Authors: A Zatková; D B de Bernabé; H Poláková; M Zvarík; E Feráková; V Bosák; V Ferák; L Kádasi; S R de Córdoba
Journal: Am J Hum Genet Date: 2000-10-02 Impact factor: 11.025

Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria.

1. Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

2. An update on molecular genetics of Alkaptonuria (AKU).

3. Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.

4. High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.

5. Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

6. Genetics and genomic medicine in Slovakia.

7. Identification of HGD and GSTZ1 as Biomarkers Involved Metabolic Reprogramming in Kidney Renal Clear Cell Carcinoma.