DETECTION OF A NOVEL MUTATION (STOP-468) IN EXON-10 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE CAUSING FAMILIAL HYPERCHOLESTEROLEMIA AMONG FRENCH-CANADIANS

被引：30

作者：

SIMARD, J

MOORJANI, S

VOHL, MC

COUTURE, P

TORRES, AL

GAGNE, C

DESPRES, JP

LABRIE, F

LUPIEN, PJ

机构：

[1] CHU LAVAL, RES CTR, LIPID RES CTR, QUEBEC CITY G1V 4G2, PQ, CANADA

[2] UNIV LAVAL, QUEBEC CITY G1V 4G2, PQ, CANADA

[3] CHU LAVAL, RES CTR, MOLEC ENDOCRINOL LAB, QUEBEC CITY G1V 4G2, PQ, CANADA

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 09期

关键词：

D O I：

10.1093/hmg/3.9.1689

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：1689 / 1691

页数：3

共 24 条

[1] PREVALENCE AND GEOGRAPHICAL-DISTRIBUTION OF MAJOR LDL RECEPTOR GENE REARRANGEMENTS IN FINLAND [J].

AALTOSETALA, K ;

KOIVISTO, UM ;

MIETTINEN, TA ;

GYLLING, H ;

KESANIEMI, YA ;

SAVOLAINEN, M ;

PYORALA, K ;

EBELING, T ;

MONONEN, I ;

TURTOLA, H ;

VIIKARI, J ;

KONTULA, K .

JOURNAL OF INTERNAL MEDICINE, 1992, 231 (03) :227-234

[2] MOLECULAR GENETIC-EVIDENCE FOR A FOUNDER EFFECT IN FAMILIAL HYPERCHOLESTEROLEMIA AMONG FRENCH-CANADIANS [J].

BETARD, C ;

KESSLING, AM ;

ROY, M ;

CHAMBERLAND, A ;

LUSSIERCACAN, S ;

DAVIGNON, J .

HUMAN GENETICS, 1992, 88 (05) :529-536

[3]

Goldstein J.L., 1989, METABOLIC BASIS INHE, P1215

[4]

Hobbs Helen H., 1992, Human Mutation, V1, P445, DOI 10.1002/humu.1380010602

[5] MULTIPLE CRM- MUTATIONS IN FAMILIAL HYPERCHOLESTEROLEMIA - EVIDENCE FOR 13 ALLELES, INCLUDING 4 DELETIONS [J].

HOBBS, HH ;

LEITERSDORF, E ;

GOLDSTEIN, JL ;

BROWN, MS ;

RUSSELL, DW .

JOURNAL OF CLINICAL INVESTIGATION, 1988, 81 (03) :909-917

[6] DELETION IN THE GENE FOR THE LOW-DENSITY-LIPOPROTEIN RECEPTOR IN A MAJORITY OF FRENCH-CANADIANS WITH FAMILIAL HYPERCHOLESTEROLEMIA [J].

HOBBS, HH ;

BROWN, MS ;

RUSSELL, DW ;

DAVIGNON, J ;

GOLDSTEIN, JL .

NEW ENGLAND JOURNAL OF MEDICINE, 1987, 317 (12) :734-737

[7]

JOMPHE M, 1988, AM J HUM GENET S, V43, pA861

[8] INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA [J].

KHACHADURIAN, AK .

AMERICAN JOURNAL OF MEDICINE, 1964, 37 (03) :402-&

[9] THE FAMILIAL HYPERCHOLESTEROLEMIA (FH) NORTH KARELIA MUTATION OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE DELETES 7 NUCLEOTIDES OF EXON-6 AND IS A COMMON CAUSE OF FH IN FINLAND [J].

KOIVISTO, UM ;

TURTOLA, H ;

AALTOSETALA, K ;

TOP, B ;

FRANTS, RR ;

KOVANEN, PT ;

SYVANEN, AC ;

KONTULA, K .

JOURNAL OF CLINICAL INVESTIGATION, 1992, 90 (01) :219-228

[10] THE MOLECULAR-BASIS AND DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA IN SOUTH-AFRICAN AFRIKANERS [J].

KOTZE, MJ ;

LANGENHOVEN, E ;

WARNICH, L ;

DUPLESSIS, L ;

RETIEF, AE .

ANNALS OF HUMAN GENETICS, 1991, 55 :115-121

← 1 2 3 →