Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.
about
In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysisDirect characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutationDetection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencingMolecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene
P2860
Q30414362-6CF1E470-5A65-4874-878F-07016E8C2819Q33597606-0B651046-298B-4A78-A06B-66C695149AC0Q33868116-D4153936-0AFB-4546-8606-773B6CE4F689Q34868491-34CA7C03-0393-439F-BEB1-257EE4587083Q35194296-2101FFD2-0CC0-4C72-8F35-22647B6886D9Q35197586-E56D5734-6F2D-48A1-9CE2-C1792DE340B4Q37582874-2FAD42CB-CA45-4408-A441-39ABE8B17F38Q40506896-F9652565-BEDF-4FAC-BBEF-58411A7B4FEA
P2860
Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.
description
1988 nî lūn-bûn
@nan
1988 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Moderately severe hemophilia A ...... xon 7 of the factor VIII gene.
@ast
Moderately severe hemophilia A ...... xon 7 of the factor VIII gene.
@en
type
label
Moderately severe hemophilia A ...... xon 7 of the factor VIII gene.
@ast
Moderately severe hemophilia A ...... xon 7 of the factor VIII gene.
@en
prefLabel
Moderately severe hemophilia A ...... xon 7 of the factor VIII gene.
@ast
Moderately severe hemophilia A ...... xon 7 of the factor VIII gene.
@en
P2093
P2860
P921
P1476
Moderately severe hemophilia A ...... xon 7 of the factor VIII gene.
@en
P2093
H H Kazazian
H Platokoukis
H Youssoufian
S E Antonarakis
P2860
P304
P407
P577
1988-06-01T00:00:00Z