The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32

PLoS ONE

Volumn 5, Issue 1, 2010, Pages

  Becirovic, Elvir ^a   Nakova, Kostadinka ^a   Hammelmann, Verena ^a   Hennel, Roman ^a   Biel, Martin ^a   Michalakis, Stylianos ^a  

^a UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID;

ARTICLE; BETA SUBUNIT OF THE ROD CYCLIC NUCLEOTIDE GATED CHANNEL GENE; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE EXPRESSION; HUMAN; HUMAN CELL; RETINITIS PIGMENTOSA;

AMINO ACID SEQUENCE; BLOTTING, WESTERN; CYCLIC NUCLEOTIDE-GATED CATION CHANNELS; EXONS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; RETINITIS PIGMENTOSA;

EID: 77952494765     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0008969     Document Type: Article

References (10)

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