Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Kasey H. Petersen"'
Autor:
Nicole M. Tate, Katie M. Minor, Jody P. Lulich, James R. Mickelson, Allyson Berent, Jonathan D. Foster, Kasey H. Petersen, Eva Furrow
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100792- (2021)
Hereditary xanthinuria is a rare autosomal recessive disease caused by missense and loss of function variants in the xanthine dehydrogenase (XDH) or molybdenum cofactor sulfurase (MOCOS) genes. The aim of this study was to uncover variants underlying
Externí odkaz:
https://doaj.org/article/d0d68e09b2a84a188ca82aec80814820
Autor:
Nicole M, Tate, Katie M, Minor, Jody P, Lulich, James R, Mickelson, Allyson, Berent, Jonathan D, Foster, Kasey H, Petersen, Eva, Furrow
Publikováno v:
Molecular Genetics and Metabolism Reports
Hereditary xanthinuria is a rare autosomal recessive disease caused by missense and loss of function variants in the xanthine dehydrogenase (XDH) or molybdenum cofactor sulfurase (MOCOS) genes. The aim of this study was to uncover variants underlying
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::46700f034c9f08a1896a11a2aeaaf926
https://pubmed.ncbi.nlm.nih.gov/34584846
https://pubmed.ncbi.nlm.nih.gov/34584846
Autor:
Jody P. Lulich, Allyson Berent, Eva Furrow, Nicole M. Tate, Kasey H. Petersen, Katie M. Minor, James R. Mickelson, Jonathan D. Foster
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100792-(2021)
Hereditary xanthinuria is a rare autosomal recessive disease caused by missense and loss of function variants in the xanthine dehydrogenase (XDH) or molybdenum cofactor sulfurase (MOCOS) genes. The aim of this study was to uncover variants underlying
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc60ba2b1743846d1e5e71e1b6a35909
https://doi.org/10.1016/j.ymgmr.2021.100792
https://doi.org/10.1016/j.ymgmr.2021.100792