Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

Journal of Biological Chemistry

Volumn 287, Issue 34, 2012, Pages 28975-28985

  Carta, Eloisa ^a   Chung, Seo Kyung ^b   James, Victoria M ^a   Robinson, Angela ^b   Gill, Jennifer L ^a   Remy, Nathalie ^c   Vanbellinghen, Jean François ^d   Drew, Cheney J G ^b   Cagdas, Sophie ^e   Cameron, Duncan ^f   Cowan, Frances M ^g   Del Toro, Mireria ^h   Graham, Gail E ⁱ   Manzur, Adnan Y ^j   Masri, Amira ^k   Rivera, Serge ^l   Scalais, Emmanuel ^m   Shiang, Rita ⁿ   Sinclair, Kate ^o   Stuart, Catriona A ^p   Tijssen, Marina A J ^q   Wise, Grahame ^r   Zuberi, Sameer M ^s   Harvey, Kirsten ^a   Pearce, Brian R ^a   Topf, Maya ^t   Thomas, Rhys H ^b   Supplisson, Stéphane ^u,v,w   Rees, Mark I ^b   Harvey, Robert J ^a   more..

^a UNIVERSITY OF LONDON   (United Kingdom)

^b SWANSEA UNIVERSITY   (United Kingdom)

^c UNIVERSITY OF LIÈGE   (Belgium)

^d INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^e CARLO POMA HOSPITAL   (Italy)

^f GLAN CLWYD HOSPITAL   (United Kingdom)

^g IMPERIAL COLLEGE LONDON   (United Kingdom)

^h HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

ⁱ CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^j GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^k UNIVERSITY OF JORDAN   (Jordan)

^l CENTRE HOSPITALIER DE LA CÔTE BASQUE   (France)

^m CENTRE HOSPITALIER DE LUXEMBOURG   (Luxembourg)

ⁿ VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^o ROYAL CHILDREN'S HOSPITAL   (Australia)

^p CUMBERLAND INFIRMARY   (United Kingdom)

^q UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^r SYDNEY CHILDREN'S HOSPITAL   (Australia)

^s ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^t UNIVERSITY OF LONDON   (United Kingdom)

^u ECOLE NORMALE SUPÉRIEURE   (France)

^v INSERM   (France)

^w CNRS   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACIDS; DNA SEQUENCES; ELECTROPHYSIOLOGY; GENE ENCODING;

AUDITORY STIMULI; CATION-PI INTERACTIONS; CONFORMATIONAL CHANGE; EXTRACELLULAR LOOPS; GLYCINE RECEPTOR; LEARNING DIFFICULTIES; PATHOGENIC MECHANISMS; SEQUENCE VARIANTS;

PATHOLOGY;

GLYCINE TRANSPORTER 2;

AMINO ACID SUBSTITUTION; ARTICLE; CONFORMATIONAL TRANSITION; DEPOLARIZATION; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GLYCINE TRANSPORTER 2 GENE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPEREKPLEXIA; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MUTATOR GENE; NONSENSE MUTATION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SEQUENCE ANALYSIS;

EID: 84865234977     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M112.372094     Document Type: Article

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