Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia

Biochemical and Biophysical Research Communications

Volumn 348, Issue 2, 2006, Pages 400-405

  Eulenburg, Volker ^a   Becker, Kristina ^b   Gomeza, Jesús ^c   Schmitt, Bernhard ^d   Becker, Cord Michael ^b   Betz, Heinrich ^a  

^a MAX PLANCK INSTITUTE FOR BRAIN RESEARCH   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Disease mutation; Glycine transporter 2; Hyperekplexia

Indexed keywords

GLYCINE TRANSPORTER 2;

ARTICLE; CONTROLLED STUDY; EMBRYO; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN TRANSPORT; STARTLE EPILEPSY; SYMPTOM;

AMINO ACID SEQUENCE; FEMALE; GLYCINE PLASMA MEMBRANE TRANSPORT PROTEINS; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUSCLE HYPERTONIA; PEDIGREE; SEQUENCE ALIGNMENT; STARTLE REACTION;

EID: 33746929426     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2006.07.080     Document Type: Article

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