Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene

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Bibliographic Details
Published inJournal of medical genetics Vol. 39; no. 7; pp. e40 - 40
Main Authors Goicoechea de Jorge, E, Lorda, I, Gallardo, M E, Pérez, B, Peréz de Ferrán, C, Mendoza, H, Rodríguez de Córdoba, S
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group Ltd 01.07.2002
BMJ Publishing Group LTD
BMJ Group
Subjects
Aged
AKU
alkaptonuria
Alkaptonuria - enzymology
Alkaptonuria - epidemiology
Alkaptonuria - genetics
Chromosome Mapping
Chromosomes
Dioxygenases
DNA - genetics
DNA Mutational Analysis
Dominican Republic - epidemiology
Founder Effect
founder mutation
Genetic Carrier Screening
Haplotypes
HGO
HGO gene
Homogentisate 1,2-Dioxygenase
homogentisate dioxygenase
Humans
Male
Mouth Mucosa - chemistry
Mouth Mucosa - cytology
Mutagenesis - genetics
Mutation
Mutation - genetics
mutation hotspots
Online Mutation Report
Oxygenases - genetics
Patients
Polymorphism
Polymorphism, Single Nucleotide - genetics
single nucleotide polymorphism
SNP
Dominican Republic
Slovakia
United States > US
Europe
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More Information
Bibliography:ark:/67375/NVC-BSFX5RQC-G
local:0390e40
Correspondence to:
 Dr S Rodríguez de Córdoba, Departamento de Inmunología. Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Velázquez 144, 28006-Madrid, Spain;
 SRdeCordoba@cib.csic.es
PMID:12114497
istex:D19F9ADD85A14E2EB0A12A9A12FCB76F80DCEDE0
href:jmedgenet-39-e40.pdf
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.39.7.e40