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

Human Molecular Genetics

Volumn 6, Issue 7, 1997, Pages 1091-1098

  Barbosa, María D F S ^a,b   Barrat, Franck J ^c   Tchernev, Velizar T ^a,b   Nguyen, Quan A ^a,b   Mishra, Vishnu S ^a,b   Colman, Steven D ^b   Pastural, Elodie ^c   Dufourcq Lagelouse, Rémi ^c   Fischer, Alain ^c   Holcombe, Randall F ^e   Wallace, Margaret R ^b   Brandt, Stephen J ^d   De Saint Basile, Geneviève ^c   Kingsmore, Stephen F ^a,b  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF FLORIDA   (United States)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d VANDERBILT UNIVERSITY   (United States)

^e LOUISIANA STATE UNIV MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHEDIAK HIGASHI SYNDROME; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNE DEFICIENCY; INTRON; LYSOSOME; MOUSE; NONHUMAN; NORTHERN BLOTTING; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROTEIN TRANSPORT; RNA SEQUENCE; SEQUENCE HOMOLOGY; STOP CODON; TISSUE DISTRIBUTION;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; BLOTTING, NORTHERN; CHEDIAK-HIGASHI SYNDROME; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; HUMANS; ISOMERISM; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PROTEINS; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID; TISSUE DISTRIBUTION; VESICULAR TRANSPORT PROTEINS;

ANIMALIA;

EID: 8544220356     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.7.1091     Document Type: Article

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