ABCA1 p.Lys171*
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PMID: 15469992
[PubMed]
Bared SM et al: "Association of ABCA1 with syntaxin 13 and flotillin-1 and enhanced phagocytosis in tangier cells."
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Comment
50
Patient TD1 bears a homozygous K171X mutation, patients TD3 and TD5 display mutations that have been published previously (Bodzioch et al., 1999).
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ABCA1 p.Lys171* 15469992:50:31
status: NEW157 To further support the hypothesis that ABCA1 may regulate phagocytosis, the phagocytic activity of fibroblasts from control donors and fibroblasts isolated from the Tangier patients TD1 (yielding a mutation at K171X), TD3 II:4 and TD5 III:4 (Bodzioch et al., 1999) was measured by flow cytometry using fluorescent yellow green-labeled phagobeads.
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ABCA1 p.Lys171* 15469992:157:210
status: NEW49 Patient TD1 bears a homozygous K171X mutation, patients TD3 and TD5 display mutations that have been published previously (Bodzioch et al., 1999).
X
ABCA1 p.Lys171* 15469992:49:31
status: NEW159 To further support the hypothesis that ABCA1 may regulate phagocytosis, the phagocytic activity of fibroblasts from control donors and fibroblasts isolated from the Tangier patients TD1 (yielding a mutation at K171X), TD3 II:4 and TD5 III:4 (Bodzioch et al., 1999) was measured by flow cytometry using fluorescent yellow green-labeled phagobeads.
X
ABCA1 p.Lys171* 15469992:159:210
status: NEW