original ) (raw )Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria
Hans-eckart Schaefer
Journal of medical genetics, 1999
View PDFchevron_right
Novel mutations in the homogentisate- 1,2-dioxygenase gene identified in Slovak patients with alkaptonuria
Vladimir Bosak
Journal of Medical Genetics, 2000
View PDFchevron_right
Alkaptonuria, ochronosis, and ochronotic arthropathy
S. Lorenzini , Berardino Porfirio
Seminars in Arthritis and Rheumatism, 2004
View PDFchevron_right
Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD)
Andrea Zatkova
Prilozi / Makedonska akademija na naukite i umetnostite, Oddelenie za biološki i medicinski nauki = Contributions / Macedonian Academy of Sciences and Arts, Section of Biological and Medical Sciences, 2011
View PDFchevron_right
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene
Wolfram Kress
British Journal of Ophthalmology, 1999
View PDFchevron_right
High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots
Vladimir Bosak
American Journal of Human Genetics, 2000
View PDFchevron_right
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from Central Asia and was spread throughout Europe and Anatolia by human migrations
Kivanc Cefle
Journal of Inherited Metabolic Disease, 2003
View PDFchevron_right
Genetics of alkaptonuria – an overview
Andrea Zatkova
Acta Facultatis Pharmaceuticae Universitatis Comenianae, 2015
View PDFchevron_right
Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India
Dhanya Yesodharan
Clinical Rheumatology, 2020
View PDFchevron_right
Genetic background of alkaptonuria, a prototypic inborn error of metabolism affectingconnective tissues
Andrea Zatkova
2012
View PDFchevron_right
Mutation Screening of the HGD Gene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence
Srinivasan Sakthivel
Annals of Human Genetics, 2014
View PDFchevron_right
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria
Miriam Cordovana
JIMD reports, 2016
View PDFchevron_right
Ochronotic Arthropathy Two Case Reports from a Developing Country
Farooq A Rathore
View PDFchevron_right
Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies—a case study of 14 patients in 11 families
Aicha Ladjouze-rezig
Joint Bone Spine, 2006
View PDFchevron_right
Homogentisate 1, 2 dioxygenase is expressed in human osteoarticular cells: Implications in alkaptonuria
Laura Tinti
Journal of cellular …, 2012
View PDFchevron_right
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
Francisco Javier Jimenez
American Journal of Human Genetics, 1999
View PDFchevron_right
Alkaptonuria, a Rare Genetic Disorder and its Molecular Basis
International Journal of Scientific Research in Science, Engineering and Technology IJSRSET
View PDFchevron_right
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database
Tatiana Sedlackova , Andrea Zatkova
JIMD Reports, 2011
View PDFchevron_right
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy
Birgitta Olsson
European Journal of Human Genetics, 2015
View PDFchevron_right
Ochronosis – a rare metabolic disease
ANCA CARDONEANU
Romanian Journal of Rheumatology
View PDFchevron_right
Rapid detection methods for five HGO gene mutations causing alkaptonuria
Alexandra Chmelíková , Andrea Zatkova
Clinical Genetics, 2003
View PDFchevron_right
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria
Marjan Huizing
Human Mutation, 2009
View PDFchevron_right
Natural History of Alkaptonuria
Marjan Huizing
New England Journal of Medicine, 2002
View PDFchevron_right