Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene.
about
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.Genetic screening for homozygous and heterozygous familial hypercholesterolemia
P2860
Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Utilities for high throughput ...... ity lipoprotein receptor gene.
@en
type
label
Utilities for high throughput ...... ity lipoprotein receptor gene.
@en
prefLabel
Utilities for high throughput ...... ity lipoprotein receptor gene.
@en
P2093
P2860
P356
P1476
Utilities for high throughput ...... ity lipoprotein receptor gene.
@en
P2093
P2860
P304
P356
10.1136/JMG.32.7.509
P407
P577
1995-07-01T00:00:00Z