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High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL).
DNA samples from 54 unrelated NSHL patients from endogamous and inbred population of Slovak Roms (Gypsies) from Eastern Slovakia were screened for GJB2 mutations and the W24X mutation, previously found in India and Pakistan, was brought by the European Romnanies from their Indian homeland.
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.
A HGD mutation database that is open for future submissions and available online provides a valuable tool for information exchange in AKU research and care fields and certainly presents a useful data source for genotype-phenotype correlations and also for future clinical trials.
GJB2 gene mutations in Slovak hearing‐impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis
This study is aimed to determine the spectrum and frequencies of GBJ2 gene (coding region) mutations in Slovak NSHI patients of Caucasian origin.
Long distance PCR in detection of inversion mutations of F8C gene in hemophilia A patients.
The most successful and reproducible results were obtained performing four single LD-PCR reactions with combinations of two-primers A & B; P & Q; A&Q, and P&B in each DNA sample and this approach is recommended for routine using in clinical practice.
Linkage of Autosomal Recessive Primary Congenital Glaucoma to the GLC3A Locus in Roms (Gypsies) from Slovakia
This finding demonstrates that in the Rom population of Slovakia, primary congenital glaucoma is due to the locus GLC3A, and consequently, to the mutation(s) in the cytochrome P4501B1 gene, which has been recently identified as the principal cause of the disease.
Rapid detection methods for five HGO gene mutations causing alkaptonuria
Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency of homogentisate 1,2 dioxygenase (HGO) activity. The disease is characterized by homogentisic aciduria, ochronosis and
Novel mutations in the homogentisate- 1,2-dioxygenase gene identified in Slovak patients with alkaptonuria
Results of mutation screening of the HGO gene in 32 AKU chromosomes carried by 17 Slovak AKU patients are presented and formal proof that AKU results from a defect in this gene is provided.