Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level
about
Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiencyFamilial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the fLiver fibrosis in a patient with familial homozygous hypobetalipoproteinaemia: possible role of vitamin supplementation.Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindredGenetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.Truncated variants of apolipoprotein B cause hypobetalipoproteinaemiaInteractions between α-tocopherol, polyunsaturated fatty acids, and lipoxygenases during embryogenesis.
P2860
Q24561514-65B74790-29BD-4326-AAB0-391802666BDCQ34246106-2F2F1EBC-481B-4DB6-9CC7-4870A962270FQ34375187-3DC7C8F8-DADC-49E1-88A9-A08CAAC8C75BQ34561886-2F9946C3-2F02-499A-88F4-0F8259FE12AEQ35593754-9A632610-42B5-4C1A-B013-29B8F2E0313DQ36065192-CE56BE28-6D53-4D50-BD2E-DB216B336341Q37416809-C75D430D-381A-44C6-B9F8-3815D8490C8E
P2860
Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level
description
1988 nî lūn-bûn
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1988年の論文
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1988年論文
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1988年論文
@zh-hant
1988年論文
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1988年論文
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1988年論文
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1988年论文
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1988年论文
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1988年论文
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name
Homozygous hypobetalipoprotein ...... einemia at the molecular level
@ast
Homozygous hypobetalipoprotein ...... einemia at the molecular level
@en
type
label
Homozygous hypobetalipoprotein ...... einemia at the molecular level
@ast
Homozygous hypobetalipoprotein ...... einemia at the molecular level
@en
prefLabel
Homozygous hypobetalipoprotein ...... einemia at the molecular level
@ast
Homozygous hypobetalipoprotein ...... einemia at the molecular level
@en
P2093
P2860
P356
P1476
Homozygous hypobetalipoprotein ...... einemia at the molecular level
@en
P2093
Brewer HB Jr
Jefferson J
P2860
P304
P356
10.1172/JCI113357
P407
P577
1988-02-01T00:00:00Z