Defective presynaptic choline transport underlies hereditary motor neuropathy

American Journal of Human Genetics

Volumn 91, Issue 6, 2012, Pages 1103-1107

  Barwick, Katy E S ^a   Wright, Jane ^b   Al Turki, Saeed ^c   McEntagart, Meriel M ^a   Nair, Ajith ^a   Chioza, Barry ^a   Al Memar, Ali ^d   Modarres, Hamid ^d   Reilly, Mary M ^e   Dick, Katherine J ^a   Ruggiero, Alicia M ^b   Blakely, Randy D ^b,f   Hurles, Matt E ^c   Crosby, Andrew H ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d ST GEORGE S HOSPITAL   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CHOLINE; CHOLINE TRANSPORTER; UNCLASSIFIED DRUG;

ADULT; AMINE TRANSPORT; ARTICLE; CELL MEMBRANE TRANSPORT; EXOME; GENE; GENE DELETION; GENE SEQUENCE; HEREDITARY MOTOR NEUROPATHY; HUMAN; HUMAN CELL; MALE; MOTOR NEUROPATHY; NERVE ENDING; NEUROMUSCULAR SYNAPSE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; SEQUENCE ANALYSIS; SLC 5A7 GENE;

ADULT; FEMALE; HUMANS; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; PEDIGREE; PHENOTYPE; PRESYNAPTIC TERMINALS; SYMPORTERS;

EID: 84870868326     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.09.019     Document Type: Article

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