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Additional file 2: of An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

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posted on 2017-02-07, 05:00 authored by Polona Le Quesne Stabej, Chela James, Louise Ocaka, Mehmet Tekman, Stephanie Grunewald, Emma Clement, Horia Stanescu, Robert Kleta, Deborah Morrogh, Alistair Calder, Hywel Williams, Maria Bitner-Glindzicz
PDZD7 cDNA primers used for Sanger sequencing. (DOCX 14 kb)

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National Institute for Health Research

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    Orphanet Journal of Rare Diseases

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    Keywords

    Next generation sequencingAutosomal recessive non-syndromic hearing lossPDZD7Osteogenesis imperfectaMosaicismCOL1A1 C-propeptide cleavage site

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    CC BY + CC0

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