Zobrazeno 1 - 2 of 2 pro vyhledávání: '"Ravi Kumar Reddy Kondareddy"'
1
Detection of c.139G>A (D47N) mutation in GJA8 gene in an extended family with inheritance of autosomal dominant zonular cataract without pulverulent opacities by exome sequencing
Autor: Ravi Kumar Reddy Kondareddy, Padma Tirunilai, Syed Saifuddin Adeel, Padma Gunda, Mamata Manne
Publikováno v: Journal of Genetics. 97:879-885
The aim of this studywas to identify the gene causing bilateral autosomal dominant zonular congenital cataract (ADZCC) without pulverulent opacities in an extended Muslim family by exome sequencing and subsequent analysis. An extended family of 37 me
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5a2e544a51e0354a53e37df6d9f6c400
https://doi.org/10.1007/s12041-018-0971-3
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2
Detection of c.139GA (D47N) mutation in
Autor: Padma, Gunda, Mamata, Manne, Syed Saifuddin, Adeel, Ravi Kumar Reddy, Kondareddy, Padma, Tirunilai
Publikováno v: Journal of genetics. 97(4)
The aim of this studywas to identify the gene causing bilateral autosomal dominant zonular congenital cataract (ADZCC) without pulverulent opacities in an extended Muslim family by exome sequencing and subsequent analysis. An extended family of 37 me
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::aa999b0fbf0310f9e36b93dd3a511b94
https://pubmed.ncbi.nlm.nih.gov/30262699
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Plný text Recenzováno Digitální knihovna AV ČR
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