Publications:

Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease.

Jimd Reports

Brunham, Liam R LR; Kang, Martin H MH; Van Karnebeek, Clara C; Sadananda, Singh N SN; Collins, Jennifer A JA; Zhang, Lin-Hua LH; Sayson, Bryan B; Miao, Fudan F; Stockler, Sylvia S; Frohlich, Jiri J; Cassiman, David D; Rabkin, Simon W SW; Hayden, Michael R MR

Publication Date: 2015

Variant appearance in text: ABCA1: 3597_3598insC; Ile1200Hisfs*4

PubMed Link: 25308558

Variant Present in the following documents:

• Main text

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