Publications:

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.

Orphanet Journal Of Rare Diseases

Audo, Isabelle I; Bujakowska, Kinga M KM; Léveillard, Thierry T; Mohand-Saïd, Saddek S; Lancelot, Marie-Elise ME; Germain, Aurore A; Antonio, Aline A; Michiels, Christelle C; Saraiva, Jean-Paul JP; Letexier, Mélanie M; Sahel, José-Alain JA; Bhattacharya, Shomi S SS; Zeitz, Christina C

Publication Date: 2012-01-25

Variant appearance in text: ABCA4: 2417C>T; T806I

PubMed Link: 22277662

Variant Present in the following documents:

• Main text
• 1750-1172-7-8.pdf

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