Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function

PLoS ONE

Volumn 9, Issue 4, 2014, Pages

  Breitenkamp, Alexandra F S ^a   Matthes, Jan ^a   Nass, Robert Daniel ^a   Sinzig, Judith ^a,b   Lehmkuhl, Gerd ^a   Nürnberg, Peter ^c   Herzig, Stefan ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b LVR Klinik Bonn   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; AUTOSOMAL DOMINANT DISORDER; CACNB2 GENE; CALCIUM CHANNELOPATHY; CALCIUM CURRENT; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE INACTIVATION; HEK293 CELL LINE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; TIMOTHY SYNDROME; WHOLE CELL; AMINO ACID SEQUENCE; CHANNEL GATING; CHEMISTRY; FAMILY; GENETICS; MOLECULAR GENETICS; PATHOPHYSIOLOGY; POINT MUTATION; RNA SPLICING; TIME;

CACNB2 PROTEIN, HUMAN; CALCIUM CHANNEL L TYPE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CALCIUM CHANNELS, L-TYPE; CHILD DEVELOPMENT DISORDERS, PERVASIVE; FAMILY; HEK293 CELLS; HUMANS; ION CHANNEL GATING; MOLECULAR SEQUENCE DATA; POINT MUTATION; RNA SPLICING; TIME FACTORS;

EID: 84899689037     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0095579     Document Type: Article

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