Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in usher type II patients

Human Mutation

Volumn 28, Issue 8, 2007, Pages 781-789

  Baux, David ^a   Larrieu, Lise ^a   Blanchet, Catherine ^a   Hamel, Christian ^a   Salah, Safouane Ben ^a   Vielle, Anne ^a,k   Gilbert Dussardier, Brigitte ^b   Holder, Muriel ^c   Calvas, Patrick ^d   Philip, Nicole ^e   Edery, Patrick ^f   Bonneau, Dominique ^g   Claustres, Mireille ^a,h,i   Malcolm, Sue ^j   Roux, Anne Françoise ^a,h  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b POITIERS UNIVERSITY HOSPITAL   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d CHU PURPAN   (France)

^e TIMONE HOSPITAL   (France)

^f HÔPITAL DEBROUSSE   (France)

^g ANGERS UNIVERSITY HOSPITAL   (France)

^h INSERM   (France)

ⁱ UNIV MONTPELLIER   (France)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k UNIVERSITY OF ROME TOR VERGATA   (Italy)

more..

Author keywords

USH2A; Usher syndrome; Usherin

Indexed keywords

AMINO ACID; CYSTEINE; ISOPROTEIN;

ADOLESCENT; ADULT; AGED; ALLELE; AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STRUCTURE; SCHOOL CHILD; USH2A GENE; USHER SYNDROME; USHER SYNDROME TYPE 2;

ADOLESCENT; ADULT; AGED; ALLELES; AMINO ACID SEQUENCE; CHILD; COMPUTATIONAL BIOLOGY; CYSTEINE; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; GENOTYPE; HUMANS; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN ISOFORMS; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; USHER SYNDROMES;

EID: 34548014988     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20513     Document Type: Article

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