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Journal Article
BMC Medical Genetics, ISSN 1471-2350, 08/2018, Volume 19, Issue 1, pp. 143 - 143
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 12/2018, Volume 19, Issue 1, pp. 1 - 6
BackgroundWilson’s disease (WD) is a rare autosomal recessive metabolic disease caused by ATP7B gene mutations tat cause excessively high copper levels,... 
Ceruloplasmin | Phenotypes | Excretion | Genomics | Genes | Liver | Epidemiology | Data bases | ATP7B gene | Next-generation sequencing | Alleles | Software | Chelating agents | Mutation | Copper | Wilson's disease | Metabolic disorders | Clinical prevalence | Wilson’s disease | ATP7B | Heterozygous carrier frequency
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 11/2015, Volume 56, Issue 12, pp. 7274 - 7285
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 11/2017, Volume 40, Issue 6, pp. 845 - 852
Journal Article
BULLETIN OF EXPERIMENTAL BIOLOGY AND MEDICINE, ISSN 0007-4888, 07/2019, Volume 167, Issue 3, pp. 380 - 383
We present the results of analysis of skin epidermis thickness in individuals with recessive mutation c.-23+1G>A in the GJB2 gene in comparison with... 
selective heterozygous advantage | MEDICINE, RESEARCH & EXPERIMENTAL | thickness of epidermis | mutation c | gene GJB2 | 23+1G > A | CONNEXIN 26 | Eastern Siberia
Journal Article
Bulletin of Experimental Biology and Medicine, ISSN 0007-4888, 7/2019, Volume 167, Issue 3, pp. 380 - 383
We present the results of analysis of skin epidermis thickness in individuals with recessive mutation c.-23+1G>A in the GJB2 gene in comparison with... 
Biomedicine, general | selective heterozygous advantage | Pathology | thickness of epidermis | Biomedicine | gene GJB2 | mutation c.-23+1G>A | Internal Medicine | Laboratory Medicine | Cell Biology | Eastern Siberia | Homozygotes | GJB2 protein | Deafness | Point mutation | Heterozygotes | Epidermis | Skin | Mutation | Genotypes | Index Medicus
Journal Article
Journal Article