Identification of mutations in Danish choroideremia families
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference18 articles.
1. Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes
2. Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.
3. Cloning of a gene that is rearranged in patients with choroideraemia
4. An autosomal homologue of the choroideremia gene colocalizes with the usher syndrome type II locus on the distal part of chromosome 1q
5. Mode of Inheritance in Chorioideremia
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1. Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription;Genes;2021-07-22
2. Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants;Human Genome Variation;2020-10-23
3. Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy;Scientific Reports;2019-02-04
4. Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment;Orphanet Journal of Rare Diseases;2018-12
5. Molecular genetics characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia;Mutation Research/Reviews in Mutation Research;2018-01
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