Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency

American Journal of Human Genetics

Volumn 59, Issue 2, 1996, Pages 431-436

  Benlian, Pascale ^a,b,c   Foubert, Luc ^a,b   Gagné, Eric ^a   Bernard, Lynn ^a   De Gennes, Jean Luc ^b   Langlois, Sylvie ^a   Robinson, Wendy ^a   Hayden, Michael ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c HÔPITAL SAINT ANTOINE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; CHYLOMICRON; LIPOPROTEIN LIPASE; TRIACYLGLYCEROL;

ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CHROMOSOME 8; CHROMOSOME ANALYSIS; DISOMY; DNA DETERMINATION; DNA SEQUENCE; ENZYME ACTIVITY; FAMILIAL DISEASE; FATHER; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPERLIPOPROTEINEMIA TYPE 1; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; TRIACYLGLYCEROL BLOOD LEVEL;

ADULT; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; HOMOZYGOTE; HUMANS; LIPIDS; LIPOPROTEIN LIPASE; MALE; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 0029814070     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

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2. Antonarakis SE, Avramopoulos D, Blouin J-L, Talbot CC, Schinzel AA (1993) Mitotic (somatic cell) errors cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. Nat Genet 3:146-150
3. Babirak S, Iverius PH, Fujimoto WY, Brunzell JD (1989) Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. Arteriosclerosis 9:326-334
4. Wood S, Schertzer M, Hayden MR, Ma Y (1993) Support for a founder effect for two major lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene. Hum Genet 91:312-316
5. Zuliani G, Hobbs HH (1990) Tetranucleotide repeat polymorphism in the LPL gene. Nucleic Acids Res 18:4958