Applicability of LDLR flanking microsatellite polymorphisms for prenatal diagnosis of homozygous state for familial hypercholesterolemia

E. R. De Oliveira E Silva; L. Haddad; P. O. Kwiterovich; S. E. Humphries; I. N.M. Day

doi:10.1111/j.1399-0004.1998.tb02748.x

Applicability of LDLR flanking microsatellite polymorphisms for prenatal diagnosis of homozygous state for familial hypercholesterolemia

E. R. De Oliveira E Silva, L. Haddad, P. O. Kwiterovich, S. E. Humphries, I. N.M. Day

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

Analysis of newly identified microsatellite polymorphisms flanking the low density lipoprotein receptor (LDLR) gene was undertaken in the kindred of a child with apparent homozygous LDLR deficiency. The applicability of these approaches to prenatal diagnosis is considered and compared with previous approaches applying functional studies of the LDLR in amniotic fibroblasts.

Original language	English (US)
Pages (from-to)	375-378
Number of pages	4
Journal	Clinical Genetics
Volume	53
Issue number	5
DOIs	https://doi.org/10.1111/j.1399-0004.1998.tb02748.x
State	Published - May 1998
Externally published	Yes

Keywords

Familial hypercholesterolaemia
Homozygous
LDLR
microsatellite

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/j.1399-0004.1998.tb02748.x

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abstract = "Analysis of newly identified microsatellite polymorphisms flanking the low density lipoprotein receptor (LDLR) gene was undertaken in the kindred of a child with apparent homozygous LDLR deficiency. The applicability of these approaches to prenatal diagnosis is considered and compared with previous approaches applying functional studies of the LDLR in amniotic fibroblasts.",

keywords = "Familial hypercholesterolaemia, Homozygous, LDLR, microsatellite",

author = "{De Oliveira E Silva}, {E. R.} and L. Haddad and Kwiterovich, {P. O.} and Humphries, {S. E.} and Day, {I. N.M.}",

year = "1998",

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AU - De Oliveira E Silva, E. R.

AU - Haddad, L.

AU - Kwiterovich, P. O.

AU - Humphries, S. E.

AU - Day, I. N.M.

PY - 1998/5

Y1 - 1998/5

N2 - Analysis of newly identified microsatellite polymorphisms flanking the low density lipoprotein receptor (LDLR) gene was undertaken in the kindred of a child with apparent homozygous LDLR deficiency. The applicability of these approaches to prenatal diagnosis is considered and compared with previous approaches applying functional studies of the LDLR in amniotic fibroblasts.

AB - Analysis of newly identified microsatellite polymorphisms flanking the low density lipoprotein receptor (LDLR) gene was undertaken in the kindred of a child with apparent homozygous LDLR deficiency. The applicability of these approaches to prenatal diagnosis is considered and compared with previous approaches applying functional studies of the LDLR in amniotic fibroblasts.

KW - Familial hypercholesterolaemia

KW - Homozygous

KW - LDLR

KW - microsatellite

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Applicability of LDLR flanking microsatellite polymorphisms for prenatal diagnosis of homozygous state for familial hypercholesterolemia

Abstract

Keywords

ASJC Scopus subject areas

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