Identification of mutations in two major mRNA isoforms of the Chediak–Higashi syndrome gene in human and mouse

Chediak–Higashi syndrome is an autosomal recessive, immune deficiency disorder of human (CHS) and mouse (beige, bg) that is characterized by abnormal intracellular protein transport to, and from, the lysosome. Recent reports have described the identification of homologous genes that are mutated in h...

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Autors principals: Barbosa, Maria D. F. S., Barrat, Franck J., Tchernev, Velizar T., Nguyen, Quan A., Mishra, Vishnu S., Colman, Steven D., Pastural, Elodie, Dufourcq-Lagelouse, Rémi, Fischer, Alain, Holcombe, Randall F., Wallace, Margaret R., Brandt, Stephen J., de Saint Basile, Geneviève, Kingsmore, Stephen F.
Format: Artigo
Idioma:Inglês
Publicat: 1997
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2871070/
https://ncbi.nlm.nih.gov/pubmed/9215680
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