Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.

Human mutation

Volumn 29, Issue 3, 2008, Pages 452-

  Becirovic, Elvir ^a   Ebermann, Inga ^a   Nagy, Ditta ^a   Zrenner, Eberhart ^a   Seeliger, Mathias Wolfgang ^a   Bolz, Hanno Jörn ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; CDH23 PROTEIN, HUMAN; COMPLEMENTARY DNA; MESSENGER RNA; PRIMER DNA; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CHEMISTRY; CLASSIFICATION; EXON; GENETICS; HUMAN; INTRON; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; RNA SPLICING; USHER SYNDROME;

ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CADHERINS; DNA PRIMERS; DNA, COMPLEMENTARY; EXONS; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RNA SPLICING; RNA, MESSENGER; USHER SYNDROMES;

EID: 41449084850     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9526     Document Type: Article

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