Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).

Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder characterized by hypopigmentation or oculocutaneous albinism and severe immunologic deficiency with neutropenia and lack of natural killer (NK) cell function. Most patients die in childhood from pyogenic infections or an unusual lymph...

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Autors principals: Fukai, K., Oh, J., Karim, M. A., Moore, K. J., Kandil, H. H., Ito, H., Bürger, J., Spritz, R. A.
Format: Artigo
Idioma:Inglês
Publicat: 1996
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914913/
https://ncbi.nlm.nih.gov/pubmed/8751863
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