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PMID: 12204794
Hong SH, Rhyne J, Zeller K, Miller M
ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease.
Atherosclerosis. 2002 Oct;164(2):245-50.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
3
ABCA1 p.Pro85Leu
X
ABCA1 p.Pro85Leu 12204794:3:101
status:
NEW
view ABCA1 p.Pro85Leu details
The proband and affected individuals were heterozygotes for C254T with proline converted to leucine (
P85L
).
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50
ABCA1 p.Pro85Leu
X
ABCA1 p.Pro85Leu 12204794:50:55
status:
NEW
view ABCA1 p.Pro85Leu details
Pedigree of the kindred showing HDL segregation of the
P85L
mutation.
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51
ABCA1 p.Pro85Leu
X
ABCA1 p.Pro85Leu 12204794:51:59
status:
NEW
view ABCA1 p.Pro85Leu details
Solid symbols indicate heterozygote carrier status for the
P85L
mutation.
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73
ABCA1 p.Pro85Leu
X
ABCA1 p.Pro85Leu 12204794:73:42
status:
NEW
view ABCA1 p.Pro85Leu details
This mutation changes proline to leucine (
P85L
).
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110
ABCA1 p.Pro85Leu
X
ABCA1 p.Pro85Leu 12204794:110:89
status:
NEW
view ABCA1 p.Pro85Leu details
Mean plasma lipid levels were compared between carriers (/) and noncarriers (/) of the
P85L
mutation.
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111
ABCA1 p.Pro85Leu
X
ABCA1 p.Pro85Leu 12204794:111:90
status:
NEW
view ABCA1 p.Pro85Leu details
Mean plasma lipid levels were compared between carriers ('/) and non-carriers ((/) of the
P85L
mutation.
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121
ABCA1 p.Pro85Leu
X
ABCA1 p.Pro85Leu 12204794:121:42
status:
NEW
view ABCA1 p.Pro85Leu details
In the present study, the novel mutation (
P85L
) in ABCA1 was identified in one family with low HDL but was not detected in over 400 chromosomes of healthy subjects.
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122
ABCA1 p.Pro85Leu
X
ABCA1 p.Pro85Leu 12204794:122:42
status:
NEW
view ABCA1 p.Pro85Leu details
In the present study, the novel mutation (
P85L
) in ABCA1 was identified in one family with low HDL but was not detected in over 400 chromosomes of healthy subjects.
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123
ABCA1 p.Pro85Leu
X
ABCA1 p.Pro85Leu 12204794:123:4
status:
NEW
view ABCA1 p.Pro85Leu details
The
P85L
mutation is located in the 5?
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124
ABCA1 p.Pro85Leu
X
ABCA1 p.Pro85Leu 12204794:124:4
status:
NEW
view ABCA1 p.Pro85Leu details
The
P85L
mutation is located in the 5?
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