The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.

The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.

Item
http://www.wikidata.org/entity/Q42622604
Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.Genetic association of PROC variants with pulmonary embolism in Northern Chinese Han population.Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report.Down-regulation of the clotting cascade by the protein C pathwayThe investigation of a patient with unexpected venous thrombosis.Impaired secretion of the elongated mutant of protein C (protein C-Nagoya). Molecular and cellular basis for hereditary protein C deficiency.Expression and functional characterisation of natural R147W and K150del variants of protein C in the Chinese population.
P2860

The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.

Item
http://www.wikidata.org/entity/Q42622604
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
1991年论文
@zh
1991年论文
@zh-cn
name
The spectrum of genetic defect ...... rogeneity and founder effects.
@en
The spectrum of genetic defect ...... rogeneity and founder effects.
@nl
type
label
The spectrum of genetic defect ...... rogeneity and founder effects.
@en
The spectrum of genetic defect ...... rogeneity and founder effects.
@nl
prefLabel
The spectrum of genetic defect ...... rogeneity and founder effects.
@en
The spectrum of genetic defect ...... rogeneity and founder effects.
@nl
P1433
P1476
P2093
P304
P31
P407
P433
P478
P577
P698
P1433
P1476
The spectrum of genetic defect ...... rogeneity and founder effects.
@en
P2093
P304
P31
P407
P433
P478
P577
P698