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The Lancet, ISSN 0140-6736, 2014, Volume 383, Issue 9923, pp. 1129 - 1137
Background Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1... 
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 07/2019, p. 1
Journal Article
Journal Article
Arthritis & Rheumatism, ISSN 0004-3591, 08/2013, Volume 65, Issue 8, pp. 2161 - 2171
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 69 - 75
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2010, Volume 87, Issue 3, p. 345
Autozygosity mapping and copy number analysis was performed to identify intragenic deletion and mutations in OCLN in nine patients from six families with... 
Nervous system diseases | Gene mutations | Analysis | Physiological aspects | Calcification | Genetic aspects | Blood proteins
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 581 - 592
Journal Article