Výsledky vyhledávání - "L'udevít Kádasi"

A Common Founder Effect of the Splice Site Variant c.-23+1G>A in GJB2 Gene Causing Autosomal Recessive Deafness 1A (DFNB1A) in Eurasia

Autor: Aisen V Solovyev, Alena Kushniarevich, Elena Bliznetz, Marita Bady-Khoo, Maria R Lalayants, Tatiana G Markova, Gabriel Minárik, L'udevít Kádasi, Ene Metspalu, Vera G Pshennikova, Fedor M Teryutin, Anatoly N Alekseev, Elza K Khusnutdinova, Alexander Poliakov, Mait Мetspalu, Olga L Posukh, Nikolay A Barashkov, Sardana A Fedorova

The mutations in the GJB2 gene are known to be a major cause of autosomal recessive deafness 1A (OMIM 220290). The most common pathogenic variants of the GJB2 gene have high ethno-geographic specificity in their distribution that being attributed to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1a1dcbfd6f9ec92417babfcf62bd10b3
https://doi.org/10.21203/rs.3.rs-670020/v1

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A common founder effect of the splice site variant c.-23 + 1G A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia

Autor: Aisen V, Solovyev, Alena, Kushniarevich, Elena, Bliznetz, Marita, Bady-Khoo, Maria R, Lalayants, Tatiana G, Markova, Gabriel, Minárik, L'udevít, Kádasi, Ene, Metspalu, Vera G, Pshennikova, Fedor M, Teryutin, Elza K, Khusnutdinova, Alexander, Poliakov, Mait, Metspalu, Olga L, Posukh, Nikolay A, Barashkov, Sardana A, Fedorova

Publikováno v: Human genetics. 141(3-4)

Mutations in the GJB2 gene are known to be a major cause of autosomal recessive deafness 1A (OMIM 220290). The most common pathogenic variants of the GJB2 gene have a high ethno-geographic specificity in their distribution, being attributed to a foun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bc88e73c2c7d58e60dc50ee55370079b
https://pubmed.ncbi.nlm.nih.gov/34839402

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Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations

Autor: Peter, Kolesár, Gabriel, Minárik, Marián, Baldovic, Andrej, Ficek, László, Kovács, L'udevít, Kádasi

Publikováno v: General physiology and biophysics. 27(4)

Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder in Caucasians. Its incidence is approximately 1:2500 newborns. CF is caused by mutations in the transmembrane conductance regulator (CFTR) gene, which encodes an important ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ad9de1c8b300a7b275a1c6e6b63048a6
https://pubmed.ncbi.nlm.nih.gov/19202204

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