Publications:

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

European Journal Of Human Genetics : Ejhg

Pereiro, Ines I; Hoskins, Bethan E BE; Marshall, Jan D JD; Collin, Gayle B GB; Naggert, Jürgen K JK; Piñeiro-Gallego, Teresa T; Oitmaa, Eneli E; Katsanis, Nicholas N; Valverde, Diana D; Beales, Philip L PL

Publication Date: 2011-04

Variant appearance in text: TG: S1142X

PubMed Link: 21157496

Variant Present in the following documents:

• Main text

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