Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa | Zendy

David Simpson | Zendy; Graeme R. Clark | Zendy; Sarah Alexander | Zendy; Giuliana Silvestri | Zendy; Colin E. Willoughby | Zendy

Open Access

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa

Author(s) -

David Simpson,

Graeme R. Clark,

Sarah Alexander,

Giuliana Silvestri,

Colin E. Willoughby

Publication year - 2010

Publication title -

journal of medical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.439

H-Index - 170

eISSN - 1468-6244

pISSN - 0022-2593

DOI - 10.1136/jmg.2010.083568

Subject(s) - retinitis pigmentosa , genetics , biology , dna sequencing , mutation , gene , missense mutation , genetic heterogeneity , coding region , phenotype

The genetic heterogeneity of many Mendelian disorders, such as retinitis pigmentosa which results from mutations in over 40 genes, is a major obstacle to obtaining a molecular diagnosis in clinical practice. Targeted high-throughput DNA sequencing offers a potential solution and was used to develop a molecular diagnostic screen for patients with retinitis pigmentosa.

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