المؤلفون: Wei L, Hou L, Ying YQ, Luo XP

المصدر: Pharmacogenomics and Personalized Medicine, Vol Volume 15, Pp 1-8 (2022)

مصطلحات موضوعية: perrault syndrome, twnk gene, chinese, whole-exome sequencing, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/a-novel-missense-mutation-inTest-twnk-gene-causing-perrault-syndrome-type--peer-reviewed-fulltext-article-PGPM; https://doaj.org/toc/1178-7066Test

الوصول الحر: https://doaj.org/article/7d20d2b453ad4403b2e108fb06771629Test

المؤلفون: Laura Bermejo-Guerrero, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Pablo Serrano-Lorenzo, Alberto Blázquez-Encinar, Gerardo Gutiérrez-Gutiérrez, Laura Martínez-Vicente, Lucía Galán-Dávila, Jorge García-García, Joaquín Arenas, Nuria Muelas, Aurelio Hernández-Laín, Cristina Domínguez-González, Miguel A. Martín

المصدر: Journal of Clinical Medicine; Volume 11; Issue 1; Pages: 22

مصطلحات موضوعية: TWNK gene, mitochondrial dysfunction, mtDNA maintenance defects, progressive external ophthalmoplegia

وصف الملف: application/pdf

العلاقة: Clinical Laboratory Medicine; https://dx.doi.org/10.3390/jcm11010022Test

الإتاحة: https://doi.org/10.3390/jcm11010022Test

المؤلفون: Biruta Kierdaszuk, Magdalena Kaliszewska, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Katarzyna Tońska, Anna M. Kamińska, Anna Kostera-Pruszczyk

المصدر: Genes; Volume 12; Issue 1; Pages: 54

مصطلحات موضوعية: mitochondrial disorders, progressive external ophthalmoplegia, POLG gene, TWNK gene, RNASEH1 gene, mitochondrial DNA deletions, multiple mitochondrial DNA deletions, muscle biopsy

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12010054Test

الإتاحة: https://doi.org/10.3390/genes12010054Test

المؤلفون: Anna Kostera-Pruszczyk, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Biruta Kierdaszuk, Magdalena Kaliszewska, Katarzyna Tońska, Anna Kamińska

المصدر: Genes
Volume 12
Issue 1
Genes, Vol 12, Iss 54, p 54 (2021)

مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial encephalomyopathy, Ophthalmoplegia, Chronic Progressive External, Mitochondrial Diseases, Gene Expression, Kearns-Sayre Syndrome, TWNK gene, 0302 clinical medicine, Cerebellum, Medicine, Child, Genetics (clinical), Sequence Deletion, Middle Aged, DNA Polymerase gamma, Mitochondria, Pedigree, Female, medicine.symptom, muscle biopsy, RNASEH1 gene, Adult, medicine.medical_specialty, Mitochondrial DNA, Adolescent, lcsh:QH426-470, Mitochondrial disease, Genetic counseling, Ribonuclease H, DNA, Mitochondrial, Article, Ophthalmoparesis, Diagnosis, Differential, Mitochondrial Proteins, multiple mitochondrial DNA deletions, 03 medical and health sciences, mitochondrial disorders, Mitochondrial Encephalomyopathies, POLG gene, Internal medicine, Genetics, Humans, Muscle, Skeletal, Cerebrum, Aged, Polymorphism, Genetic, business.industry, External ophthalmoplegia, DNA Helicases, medicine.disease, progressive external ophthalmoplegia, lcsh:Genetics, 030104 developmental biology, Poland, mitochondrial DNA deletions, business, Chronic progressive external ophthalmoplegia, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f5e9eb9fa21a47ae74a18085f3fdcc0Test