In April 2016 Manchester eScholar was replaced by the University of Manchester’s new Research Information Management System, Pure. In the autumn the University’s research outputs will be available to search and browse via a new Research Portal. Until then the University’s full publication record can be accessed via a temporary portal and the old eScholar content is available to search and browse via this archive.

Related resources

Full-text held externally

University researcher(s)

    Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and plumonary fibrosis

    Mercier S, Kury S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Falvre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, La Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay, K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bezieau S, Mayosi BM

    American Journal of Human Genetics. 2013;93(6):1100-1107.

    Access to files

    Full-text and supplementary files are not available from Manchester eScholar. Full-text is available externally using the following links:

    Full-text held externally

    Bibliographic metadata

    Type of resource:
    Content type:
    Publication status:
    Accepted
    Publication type:
    Published date:
    Abbreviated journal title:
    ISSN:
    Publisher:
    Volume:
    93
    Issue:
    6
    Start page:
    1100
    End page:
    1107
    Total:
    7
    Pagination:
    1100-1107
    Digital Object Identifier:
    10.1016/j.ajhg.2013.10.013
    Attached files embargo period:
    Immediate release
    Attached files release date:
    4th November, 2014
    Access state:
    Active

    Institutional metadata

    University researcher(s):
    Academic department(s):

    Record metadata

    Manchester eScholar ID:
    uk-ac-man-scw:238662
    Created by:
    Price, Caroline
    Created:
    4th November, 2014, 14:55:43
    Last modified by:
    Price, Caroline
    Last modified:
    4th November, 2014, 14:55:43

    Can we help?

    The library chat service will be available from 11am-3pm Monday to Friday (excluding Bank Holidays). You can also email your enquiry to us.