Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

Proceedings of the National Academy of Sciences of the United States of America

Volumn 95, Issue 16, 1998, Pages 9654-9659

  Ohno, Kinji ^a   Brengman, Joan ^a   Tsujino, Akira ^a   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINESTERASE; COLLAGEN; COMPLEMENTARY DNA; ENZYME;

ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CERCOPITHECIDAE; CHROMOSOMAL LOCALIZATION; CONTROLLED STUDY; ENZYME ACTIVE SITE; ENZYME DEFICIENCY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; GENE STRUCTURE; HUMAN; HUMAN TISSUE; MALE; NERVE ENDING; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ACETYLCHOLINESTERASE; ADOLESCENT; ADULT; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CLONING, MOLECULAR; COLLAGEN; COS CELLS; DNA, COMPLEMENTARY; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MOTOR ENDPLATE; MUSCLE PROTEINS; MUTATION; PROTEIN BINDING; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID;

ANIMALIA; CERCOPITHECIDAE; RODENTIA;

EID: 0032483003     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.95.16.9654     Document Type: Article

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