Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

A Meindl, D Hosenfeld, Wolfgang Brückl (Co-author), S Schuffenhauer, J Jenderny, A Bacskulin, H C Oppermann, O Swensson, P Bouloux, T Meitinger

    Research output: Contribution to journalOriginal Articlepeer-review

    47 Citations (Web of Science)
    Original languageEnglish
    Pages (from-to)838-842
    JournalJOURNAL OF MEDICAL GENETICS
    Volume30
    Issue number10
    Publication statusPublished - 1993

    Keywords

    • DISTAL SHORT ARM
    • DUCHENNE MUSCULAR-DYSTROPHY
    • CHONDRODYSPLASIA PUNCTATA
    • STEROID SULFATASE
    • LINKAGE ANALYSIS
    • HIGH-RESOLUTION
    • CHROMOSOME
    • GENE
    • ICHTHYOSIS
    • LOCALIZATION

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