A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3

Sandrine Boutboul, Graeme Black, Johnny Moore, Janet Sinton, Maurice Menasche, Francis L Munier, Laurent Laroche, Marc Abitbol, Daniel F Schorderet

    Research output: Contribution to journalArticle

    38 Citations (Scopus)
    LanguageEnglish
    Pages553-557
    JournalHuman Mutation
    Volume27
    Issue number6
    Publication statusPublished - 2006

    Cite this

    Boutboul, S., Black, G., Moore, J., Sinton, J., Menasche, M., Munier, F. L., ... Schorderet, D. F. (2006). A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Human Mutation, 27(6), 553-557.
    Boutboul, Sandrine ; Black, Graeme ; Moore, Johnny ; Sinton, Janet ; Menasche, Maurice ; Munier, Francis L ; Laroche, Laurent ; Abitbol, Marc ; Schorderet, Daniel F. / A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. In: Human Mutation. 2006 ; Vol. 27, No. 6. pp. 553-557.
    @article{9e292e21eb354c949763c5774fe24e24,
    title = "A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3",
    author = "Sandrine Boutboul and Graeme Black and Johnny Moore and Janet Sinton and Maurice Menasche and Munier, {Francis L} and Laurent Laroche and Marc Abitbol and Schorderet, {Daniel F}",
    year = "2006",
    language = "English",
    volume = "27",
    pages = "553--557",
    journal = "Human Mutation",
    issn = "1059-7794",
    number = "6",

    }

    Boutboul, S, Black, G, Moore, J, Sinton, J, Menasche, M, Munier, FL, Laroche, L, Abitbol, M & Schorderet, DF 2006, 'A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3', Human Mutation, vol. 27, no. 6, pp. 553-557.

    A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. / Boutboul, Sandrine; Black, Graeme; Moore, Johnny; Sinton, Janet; Menasche, Maurice; Munier, Francis L; Laroche, Laurent; Abitbol, Marc; Schorderet, Daniel F.

    In: Human Mutation, Vol. 27, No. 6, 2006, p. 553-557.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3

    AU - Boutboul, Sandrine

    AU - Black, Graeme

    AU - Moore, Johnny

    AU - Sinton, Janet

    AU - Menasche, Maurice

    AU - Munier, Francis L

    AU - Laroche, Laurent

    AU - Abitbol, Marc

    AU - Schorderet, Daniel F

    PY - 2006

    Y1 - 2006

    M3 - Article

    VL - 27

    SP - 553

    EP - 557

    JO - Human Mutation

    T2 - Human Mutation

    JF - Human Mutation

    SN - 1059-7794

    IS - 6

    ER -

    Boutboul S, Black G, Moore J, Sinton J, Menasche M, Munier FL et al. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Human Mutation. 2006;27(6):553-557.