about
Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia AGenetic analysis of haemophilia A in BulgariaReward deficiency syndrome: a biogenetic model for the diagnosis and treatment of impulsive, addictive, and compulsive behaviorsHaemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Inverted low-copy repeats and genome instability--a genome-wide analysisA single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.Current Practice in the Treatment of Haemophilia.Origin of mutation in sporadic cases of severe haemophilia A in Sweden.Ectopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease.Molecular genetics of coagulation factor VIII gene and haemophilia A.Remembrances of factor VIII. Part 2: the path to mutation discovery.Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients.Genetic factors influencing inhibitor development in a cohort of South African haemophilia A patients.Multiplex analysis of two intragenic microsatellite repeat polymorphisms in the genetic diagnosis of haemophilia A.Unusual expression of the F9 gene in peripheral lymphocytes hinders investigation of F9 mRNA in hemophilia B patients.Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis.Genetic diagnosis of haemophilia A of Chinese origin.Identification of intron 1 and 22 inversion mutations in the factor VIII gene of 124 Iranian families with severe haemophilia A.Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene.
P2860
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P2860
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
1992年學術文章
@zh-hant
name
Factor VIII gene explains all cases of haemophilia A.
@en
Factor VIII gene explains all cases of haemophilia A.
@nl
type
label
Factor VIII gene explains all cases of haemophilia A.
@en
Factor VIII gene explains all cases of haemophilia A.
@nl
prefLabel
Factor VIII gene explains all cases of haemophilia A.
@en
Factor VIII gene explains all cases of haemophilia A.
@nl
P2093
P921
P1433
P1476
Factor VIII gene explains all cases of haemophilia A.
@en
P2093
F Giannelli
J A Naylor
P304
P356
10.1016/0140-6736(92)93080-7
P407
P577
1992-10-01T00:00:00Z