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2 Result(s)

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    • Molecular diagnosis of Macular dystrophy : complete sequencing of RDS or peripherin gene
    • Universität Zürich
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Sequence analysis: entire coding region
    • More information
    • SWITZERLAND
    • Suisse Alémanique
    • SCHLIEREN
    • Postnatal molecular diagnosis of patterned dystrophy of the retinal pigment epithelium (PRPH2 gene)
    • MAGI'S LAB srl
    • Purpose(s) : Post-natal diagnosis
    • Specialty(ies) : Molecular genetics
    • Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
    • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing
    • More information
    • ITALY
    • TRENTINO ALTO ADIGE
    • ROVERETO