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

Nature Genetics

Volumn 14, Issue 3, 1996, Pages 307-311

  Nagle, Deborah L ^a   Karim, Mohammad A ^b   Woolf, Elizabeth A ^a   Holmgren, Lisa ^a   Bork, Peer ^c,d   Misumi, Donald J ^a   McGrail, Sonja H ^a   Dussault Jr , Barry J ^a   Perou, Charles M ^e   Boissy, Raymond E ^f   Duyk, Geoffrey M ^a   Spritz, Richard A ^b   Moore, Karen J ^a  

^a MILLENNIUM PHARMACEUTICALS INC   (United States)

^b UNIVERSITY OF WISCONSIN MADISON   (United States)

^c EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

^d MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LYST PROTEIN, HUMAN; LYST PROTEIN, MOUSE; PROTEIN; PROTEIN SERINE THREONINE KINASE; VESICULAR TRANSPORT PROTEIN; VPS15 PROTEIN KINASE;

ADULT; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ANIMAL; ARTICLE; CHEDIAK HIGASHI SYNDROME; CHEMICAL STRUCTURE; CHEMISTRY; FEMALE; GENETICS; HOMOZYGOTE; HUMAN; INFANT; MALE; MOLECULAR CLONING; MOLECULAR GENETICS; MOUSE; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PROTEIN CONFORMATION; SEQUENCE HOMOLOGY;

ADULT; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; CHEDIAK-HIGASHI SYNDROME; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MALE; MICE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; OPEN READING FRAMES; PROTEIN CONFORMATION; PROTEIN-SERINE-THREONINE KINASES; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; VESICULAR TRANSPORT PROTEINS;

EID: 0030293556     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1196-307     Document Type: Article

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