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Identification and mutation analysis of the complete gene for the Chediak-Higashi syndrome

Item Type:Article
Title:Identification and mutation analysis of the complete gene for the Chediak-Higashi syndrome
Creators Name:Nagle, D.L. and Karim, M. and Woolf, E.A. and Holmgren, L. and Bork, P. and Misumi, D. and McGrail, D. and Dussault, J.R. and Duyk, G. and Spritz, R.A. and Moore, K.J.
Keywords:Alternative Splicing, Amino Acid Sequence, Amino Acid Sequence Homology, Chediak-Higashi Syndrome, DNA Mutational Analysis, Endosomal Sorting Complexes Required for Transport, Homozygote, Molecular Cloning, Molecular Models, Molecular Sequence Data, Open Reading Frames, Protein Conformation, Protein-Serine-Threonine Kinases, Proteins, Vacuolar Sorting Protein VPS15, Vesicular Transport Proteins, Animals, Mice
Source:Nature Genetics
ISSN:1061-4036
Publisher:Nature Publishing Group
Volume:14
Page Range:307-312
Date:1 January 1996
PubMed:View item in PubMed

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