Læknablaðið - 15.02.1990, Qupperneq 15

LÆKNABLAÐIÐ
91
36. McKusick VA. The morbid anatomy of the human
genome: A review of gene mapping in clinical
medicine. Medicine 1988; 67 (1): 1-19.
37. Lehrman MA, Schneider WJ, Brown MS, Davis
G, Elhammer A, Russell DW, Goldstein JL. The
Lebanese allele at the low density lipoprotein receptor
locus. J Biol Chem 1987; 262 (1); 401-10.
38. Hobbs HH, Brown MS. Russell DW, Davignon
J, Goldstein JL. Deletion in the gene for the low-
density-lipoprotein receptor in a majority of French
Canadians with familial hypercholesterolemia. N Engl
J Med 1987; 17: 734-7.
39. Horsthemke B, Dunning A, Humphries S.
Identification of deletions in the human low density
lipoprotein receptor gene. J Med Genet 1987; 24:
144-7.
40. Langlois S, Kastelein JJP, Hayden MR.
Characterization of six partial deletions in the low-
density-lipoprotein (LDL) receptor gene causing
familial hypercholesterolemia (FH). Am J Hum Genet
1988; 43: 160-8.
41. Aalto-Setalá K. The Finnish type of the LDL receptor
gene mutation molecular characterization of the
deleted gene and the corresponding mRNA. FEBS
Lett 1988; 234 (2): 411-16.
42. Guðnason V, Sigurðsson G, Taylor R,
Bryant J, Humphries S. Rannsókn á familial
hypercholesierolemiu á Islandi með erfðatækni.
Ráðstefna um rannsóknir í Læknadeild Háskóla
íslands 11. og 12. nóvember 1988.
43. Taylor R, Bryant J, Gudnason V, Sigurdsson
G, Humphries S. A study of familial
hypercholesterolaemia in Iceland using RFLPs. J Med
Genet 1989; 26: 494-8.
44. Brink PA, Steyn LT, Coetzee GA, Van der
Westhuyzen DR. Familial hypercholesterolemia in
South African Afrikaners. Hum Genet 1987; 77: 32-5.
45. Berk K, Pedersen JC, Borresen AI, Heiberg A,
Solaas MH. Close linkage between a common DNA
polymorphism of the low-density lipoprotein (LDL)
receptor gene and its use in diagnosis. Cytogenet Cell
Genet 1985; 40: 581-2.
46. Humphries SE, Horsthemke B, Seed M, Holm M,
Wynn V, Kessling AM, Donald JA et al. A common
DNA polymorphism of the low-density lipoprotein
(LDL) receptor gene and its use in diagnosis. Lancet
1985; 4: 1003-5.
47. Leppert MF, Hasstedt SJ, Holm T, O’Connell P,
Wu L, Ash O, Williams RR, White RA. DNA
probe for the LDL receptor gene is tightly linked
to hypercholesterolaemia in a pedigree with early
coronary disease. Am J Hum Genet 1986; 39: 300-
6.
48. Armston AE, lverson SA, Burke JF. Diagnosis of
familial hypercholesterolaemia using DNA probes for
the low-density lipoprotein (LDL) receptor gene. Ann
Clin Biochem 1988; 25: 142-9.
49. Antonarakis SE, Kazazian HH, Orkin SH. DNA
polymorphism and molecular pathology of the human
globin gene clusters. Hum Genet 1985; 69: 1-14.
50. Taylor R, Jeenah M, Seed M, Humphries S. Four
DNA polymorphisms in the LDL receptor gene: their
genetic relationship and use in the study of variation
at the LDL receptor locus. J Med Genet 1988; 25:
653-9.
51. Humphries S, Taylor R, Jeenah M, Dunning A,
Horsthemke B, Seed M, Schuster H, Wolfram
G. Gene probes in diagnosis of familial
hypercholesterolemia. Arteriosclerosis Supplement
1 1989; 9: 1-59-65.
52. Kesaniemi YA, Grundy SM. Overproduction of low
density lipoproteins associated with coronary heart
disease. Arteriosclerosis 1983; 3: 40-6.
53. Sniderman AS, Shapiro D, Marpole B et al (1980).
Association of coronary atherosclerosis with
hyperapobetalipoproteinemia [increased protein but
normal cholesterol levels in human plasma low
density (B) lipoproteins]. Proc Nat Acad Sci USA
77: 604-8.
54. Salen G, Shefer S, Berginer VM. Cerebrotendinous
xanthomatosis and sitosterolemia with xanthomatosis.
In: Stanbury JB, Wyngaarden JB, Fredrickson DS et
al„ eds. The Metabolic Basis of Inherited Disease,
5th Ed. New York 1983; 300.
55. Demant T, Houlston RS, Caslake MJ, Series JJ,
Shephard J, Packard CJ, Humphries SE. Catabolic
rate of low density lipoprotein is influenced by
variation in the apolipoprotein B gene. J Clin Invest
1988; 82: 797-802.
56. Weisgraber KH, Innerarity TL, Newhouse YM,
Young SG, Amold KS, Krauss RM, Vega GL et al.
Familial defective apolipoprotein B-100: Enhanced
binding of monoclonal antibody MB47 to abnormal
low density lipoproteins. Med Science 1988; 85:
9758-62.
57. Law A, Powell LM, Brunt H, Knott TJ, Altman
DG, Rajput J, Wallis SC et al. Common DNA
polypormphism within coding sequence of
apolipoprotein B gene associated with altered lipid
levels. Lancet 1986; 7: 1301-2.
58. Talmud PJ, Bami N, Kessling AM, Carlsson P,
Damfors C, Bjursell G, Galton D. Apolipoprotein
B gene variants are involved in the determination
of serum cholesterol levels: a study in normo- and
hyperlipidaemic individuals. Atherosclerosis 1987; 67:
81-9.
59. Vega GL, Grundy SM. In vivo evidence for reduced
binding of low density lipoproteins to receptors as a
cause of primary moderate hypercholesterolemia. J
Clin Invest 1986; 78: 1410-14.
60. Hegele RA, Huang LS, Herbert PN, Blum
CB, Buring JE, Hennekens CH, Breslow JL.
Apolipoprotein B-gene DNA polymorphisms
associated with myocardial infarction. N Engl J Med
1986; 315 (24): 1509-1515.
61. Berg K. A new semm type system in man: The Lp(a)
system. Acta Pathol Microbiol Scand 1963; 59: 369-
82.
62. Utermann G, Menzel HJ, Kraft HG, Duba HC,
Kemmler HG, Seitz C. Lp(a) glycoprotein
phenotypes. Inheritance and relation to Lp(a)-
lipoprotein concentrations in plasma. J Clin Invest
1987; 80: 458-65.
63. Houlston R, Friedl W. Biochemistry and clinical
significance of lipoprotein (a). Ann Clin Biochem
1988; 25: 499-503.
64. Scanu AM. Lipoprotein (a). A potential bridge
between the fields of atherosclerosis and thrombosis.
Arch Pathol Lab Med 1988; 112: 1045-7.
65. McLean JW, Tomlinson JE, Kuang WJ, Eaton
DL, Chen EY, Fless GM, Scanu AM et al. cDNA
sequence of human apolipoprotein(a) is homologous
to plasminogen. Nature 1987; 300: 132-7.
66. Malloy MJ, Kane JP. Hypolipidemia. Med Clin N
Am 1982; 66 (2): 469-84.