-
1
-
-
0000683245
-
Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds, 8th edn. New York: McGraw-Hill
-
Kane JP, Havel RJ. Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. Vol II. 8th edn. New York: McGraw-Hill, 2001:2717-52.
-
(2001)
The metabolic and molecular bases of inherited disease
, vol.2
, pp. 2717-2752
-
-
Kane, J.P.1
Havel, R.J.2
-
2
-
-
20744442541
-
Familial hypobetalipoproteinemia: Genetics and metabolism
-
Schonfeld G, Lin X, Yue P. Familial hypobetalipoproteinemia: genetics and metabolism. Cell Mol Life Sci 2005;62:1372-8.
-
(2005)
Cell Mol Life Sci
, vol.62
, pp. 1372-1378
-
-
Schonfeld, G.1
Lin, X.2
Yue, P.3
-
4
-
-
0031771856
-
Frequency of apo B and apo E gene mutations as causes of hypobetalipoproteinemia in the Framingham offspring population
-
Welty FK, Lahoz C, Tucker KL, Ordovas JM, Wilson PW, Shaefer EJ. Frequency of apo B and apo E gene mutations as causes of hypobetalipoproteinemia in the Framingham offspring population. Arterioscler Thromb Vasc Biol 1998;18:1745-51.
-
(1998)
Arterioscler Thromb Vasc Biol
, vol.18
, pp. 1745-1751
-
-
Welty, F.K.1
Lahoz, C.2
Tucker, K.L.3
Ordovas, J.M.4
Wilson, P.W.5
Shaefer, E.J.6
-
5
-
-
0029796614
-
Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B
-
Tarugi P, Lonardo A, Ballarini G, Grisendi A, Pulvirenti M, Bagni A, Calandra S. Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B. Gastroenterology 1996;111:1125-33.
-
(1996)
Gastroenterology
, vol.111
, pp. 1125-1133
-
-
Tarugi, P.1
Lonardo, A.2
Ballarini, G.3
Grisendi, A.4
Pulvirenti, M.5
Bagni, A.6
Calandra, S.7
-
6
-
-
11144315979
-
Liver dysfunction and steatosis in familial hypobetalipoproteinemia
-
Whitfield AJ, Barrett PH, Robertson K, Havlat MF, van Bockxmeer FM, Burnett JR. Liver dysfunction and steatosis in familial hypobetalipoproteinemia. Clin Chem 2005;51:266-9.
-
(2005)
Clin Chem
, vol.51
, pp. 266-269
-
-
Whitfield, A.J.1
Barrett, P.H.2
Robertson, K.3
Havlat, M.F.4
van Bockxmeer, F.M.5
Burnett, J.R.6
-
7
-
-
0034763555
-
Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene
-
Tarugi P, Lonardo A, Gabelli C, Sala F, Ballarini G, Cortella I, Previato L, Bertolini S, Cordera R, Calandra S. Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene. J Lipid Res 2001;42:1552-61.
-
(2001)
J Lipid Res
, vol.42
, pp. 1552-1561
-
-
Tarugi, P.1
Lonardo, A.2
Gabelli, C.3
Sala, F.4
Ballarini, G.5
Cortella, I.6
Previato, L.7
Bertolini, S.8
Cordera, R.9
Calandra, S.10
-
9
-
-
0038306862
-
A novel nontruncating apoB gene mutation, R463W, causes familial hypobetalipoproteinemia
-
Burnett JR, Shan J, Miskie BA, Whitfield AJ, Yuan J, Tran K, McKnight CJ, Hegele RA, Yao Z. A novel nontruncating apoB gene mutation, R463W, causes familial hypobetalipoproteinemia. J Biol Chem 2003;278: 13442-52.
-
(2003)
J Biol Chem
, vol.278
, pp. 13442-13452
-
-
Burnett, J.R.1
Shan, J.2
Miskie, B.A.3
Whitfield, A.J.4
Yuan, J.5
Tran, K.6
McKnight, C.J.7
Hegele, R.A.8
Yao, Z.9
-
10
-
-
0025885015
-
ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia
-
Huang L-S, Kayden H, Sokol RJ, Breslow JL. ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia. J Lipid Res 1991;32:1341-8.
-
(1991)
J Lipid Res
, vol.32
, pp. 1341-1348
-
-
Huang, L.-S.1
Kayden, H.2
Sokol, R.J.3
Breslow, J.L.4
-
11
-
-
0028295249
-
Donor splice mutation generates a lipid-associated apolipoprotein B-27.6 in a patient with homozygous hypobetalipoproteinemia
-
Talmud PJ, Krul ES, Pessah M, Gay G, Schonfeld G, Humphries SE, Infante R. Donor splice mutation generates a lipid-associated apolipoprotein B-27.6 in a patient with homozygous hypobetalipoproteinemia. J Lipid Res 1994;35:468-77.
-
(1994)
J Lipid Res
, vol.35
, pp. 468-477
-
-
Talmud, P.J.1
Krul, E.S.2
Pessah, M.3
Gay, G.4
Schonfeld, G.5
Humphries, S.E.6
Infante, R.7
-
12
-
-
0035569994
-
Donor splice site mutation (210+1 G_C) in the apo B gene causes a very low level of apo B-100 and LDL cholesterol
-
Welty FK, Guida KA, Andersen JJ. Donor splice site mutation (210+1 G_C) in the apo B gene causes a very low level of apo B-100 and LDL cholesterol. Arterioscler Thromb Vasc Biol 2001;21:1864-5.
-
(2001)
Arterioscler Thromb Vasc Biol
, vol.21
, pp. 1864-1865
-
-
Welty, F.K.1
Guida, K.A.2
Andersen, J.J.3
-
13
-
-
0036488085
-
Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation
-
Hegele RA, Miskie BA. Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation. Clin Genet 2002;61:101-3.
-
(2002)
Clin Genet
, vol.61
, pp. 101-103
-
-
Hegele, R.A.1
Miskie, B.A.2
-
14
-
-
0036321560
-
Novel mutations of apo B cause apo B truncations undetectable in plasma and familial hypobetalipoproteinemia
-
Yue P, Yuan B, Gerhard DS, Neuman RG, Isley WL, Harris WS, Schonfeld G. Novel mutations of apo B cause apo B truncations undetectable in plasma and familial hypobetalipoproteinemia. Hum Mutat 2002;20:110-16.
-
(2002)
Hum Mutat
, vol.20
, pp. 110-116
-
-
Yue, P.1
Yuan, B.2
Gerhard, D.S.3
Neuman, R.G.4
Isley, W.L.5
Harris, W.S.6
Schonfeld, G.7
-
15
-
-
1542651812
-
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia
-
Whitfield AJ, Marais AD, Robertson K, Barrett PHR, van Bockxmeer FM, Burnett JR. Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia. Hum Mutat 2003;22:178.
-
(2003)
Hum Mutat
, vol.22
, pp. 178
-
-
Whitfield, A.J.1
Marais, A.D.2
Robertson, K.3
Barrett, P.H.R.4
van Bockxmeer, F.M.5
Burnett, J.R.6
-
16
-
-
0031725165
-
Donor splice mutation (665+1GT) in familial hypobetalipoproteinemia with no detectable apo B truncation
-
Pulai J, Zakeri H, Kwok P-Y, Kim JH, Wu J, Schonfeld G. Donor splice mutation (665+1GT) in familial hypobetalipoproteinemia with no detectable apo B truncation. Am J Med Genet 1998;80:218-20.
-
(1998)
Am J Med Genet
, vol.80
, pp. 218-220
-
-
Pulai, J.1
Zakeri, H.2
Kwok, P.-Y.3
Kim, J.H.4
Wu, J.5
Schonfeld, G.6
-
17
-
-
0030779051
-
Activation of a cryptic splice-site in intron 24 leads to the formation of apolipoprotein B-27.6
-
Nemeth-Slany A, Talmud P, Grundy SM, Patel SB. Activation of a cryptic splice-site in intron 24 leads to the formation of apolipoprotein B-27.6. Atherosclerosis 1997;133:163-70.
-
(1997)
Atherosclerosis
, vol.133
, pp. 163-170
-
-
Nemeth-Slany, A.1
Talmud, P.2
Grundy, S.M.3
Patel, S.B.4
-
18
-
-
0033845820
-
A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (apoB-54.5)
-
Tarugi P, Lonardo A, Ballarini G, Erspamer L, Tondelli E, Bertolini S, Calandra S. A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (apoB-54.5). J Hepatol 2000;33:361-70.
-
(2000)
J Hepatol
, vol.33
, pp. 361-370
-
-
Tarugi, P.1
Lonardo, A.2
Ballarini, G.3
Erspamer, L.4
Tondelli, E.5
Bertolini, S.6
Calandra, S.7
-
19
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7-12.
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
den Dunnen, J.T.1
Antonarakis, S.E.2
-
20
-
-
0042316754
-
Standardizing mutation nomenclature: Why bother?
-
den Dunnen JT, Paalman MH. Standardizing mutation nomenclature: why bother? Hum Mutat 2003;22:181-2.
-
(2003)
Hum Mutat
, vol.22
, pp. 181-182
-
-
den Dunnen, J.T.1
Paalman, M.H.2
-
21
-
-
17144362174
-
Automated splicing mutation analysis by information theory
-
Nalla VK, Rogan PK. Automated splicing mutation analysis by information theory. Hum Mutat 2005;25:334-42.
-
(2005)
Hum Mutat
, vol.25
, pp. 334-342
-
-
Nalla, V.K.1
Rogan, P.K.2
-
22
-
-
0013394889
-
Mechanisms of alternative pre-messenger RNA splicing
-
Black DL. Mechanisms of alternative pre-messenger RNA splicing. Ann Rev Biochem 2003;72:291-336.
-
(2003)
Ann Rev Biochem
, vol.72
, pp. 291-336
-
-
Black, D.L.1
-
23
-
-
0036207384
-
Listening to silence and understanding nonsense: Exonic mutations that affect splicing
-
Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002;3:285-98.
-
(2002)
Nat Rev Genet
, vol.3
, pp. 285-298
-
-
Cartegni, L.1
Chew, S.L.2
Krainer, A.R.3
-
25
-
-
0037085471
-
Blocking the secretion of hepatic very low density lipoproteins renders the liver more susceptible to toxin-induce injury
-
Bjorkegren J, Beigneux A, Bergo MO, Maher JJ, Young SG. Blocking the secretion of hepatic very low density lipoproteins renders the liver more susceptible to toxin-induce injury. J Biol Chem 2002;277:5476-83.
-
(2002)
J Biol Chem
, vol.277
, pp. 5476-5483
-
-
Bjorkegren, J.1
Beigneux, A.2
Bergo, M.O.3
Maher, J.J.4
Young, S.G.5
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