Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein

Human Molecular Genetics

Volumn 6, Issue 7, 1997, Pages 1087-1089

  Karim, Mohammad A ^d   Nagle, Deborah L ^a   Kandil, Hesham H ^b   Bürger, Joachim ^c   Moore, Karen J ^a   Spritz, Richard A ^d  

^a MILLENNIUM PHARMACEUTICALS INC   (United States)

^b AL JAHRA HOSPITAL   (Kuwait)

^c HUMBOLDT UNIVERSITY   (Germany)

^d UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; POLYPEPTIDE;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLEEDING TENDENCY; CASE REPORT; CELL GRANULE; CELL ORGANELLE; CHEDIAK HIGASHI SYNDROME; CHILD; CHROMOSOME 1Q; CYTOPLASM; FRAMESHIFT MUTATION; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOPATHOLOGY; MALE; NEUROLOGIC DISEASE; PIGMENT DISORDER; PRIORITY JOURNAL; PROTEIN TRANSPORT;

CHEDIAK-HIGASHI SYNDROME; CHILD; CODON; CONSANGUINITY; FRAMESHIFT MUTATION; HOMOZYGOTE; HUMANS; MALE; MUTATION; PROTEINS; VESICULAR TRANSPORT PROTEINS;

EID: 0030752986     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.7.1087     Document Type: Article

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