Publications:

Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease.

Orphanet Journal Of Rare Diseases

Sechi, Annalisa A; Dardis, Andrea A; Zampieri, Stefania S; Rabacchi, Claudio C; Zanoni, Paolo P; Calandra, Sebastiano S; De Maglio, Giovanna G; Pizzolitto, Stefano S; Maruotti, Valerio V; Di Muzio, Antonio A; Platt, Frances F; Bembi, Bruno B

Publication Date: 2014-09-18

Variant appearance in text: ABCA1: R1489_K1566del

PubMed Link: 25227739

Variant Present in the following documents:

• Main text
• 13023_2014_Article_143.pdf

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