Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Donald J. Misumi"'
Autor:
Deborah L. Nagle, Karen J. Moore, Barry J. Dussault, Peer Bork, Richard A. Spritz, Elizabeth A. Woolf, Geoffrey M. Duyk, Mohammad A. Karim, Donald J. Misumi, Charles M. Perou, Lisa Holmgren, Sonja H. McGrail, Raymond E. Boissy
Publikováno v:
Nature Genetics. 14:307-311
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and neurologic abnormalities. Most pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5eae0445367f06fb94250751f945645
https://doi.org/10.1038/ng1196-307
https://doi.org/10.1038/ng1196-307
Autor:
Liangtao Li, Karen J. Moore, Barry J. Dussault, Charles M. Perou, Monica J. Justice, Thomas H. Brody, Elizabeth A. Woolf, Lisa Holmgren, Cheryl A. Monroe, Robert J. Pryor, Sonja H. McGrail, Deborah L. Nagle, Donald J. Misumi, Jerry Kaplan, Geoffrey M. Duyk
Publikováno v:
Nature genetics. 13(3)
The beige mutation is a murine autosomal recessive disorder, resulting in hypopigmentation, bleeding and immune cell dysfunction. The gene defective in beige is thought to be a homologue of the gene for the human disorder Chediak-Higashi syndrome. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a96f6db3d94a316770cec8f1d1c5bd7
https://pubmed.ncbi.nlm.nih.gov/8673129
https://pubmed.ncbi.nlm.nih.gov/8673129