Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII.
about
Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093IleIn silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRMA homozygous female hemophilia AMolecular genetic analysis for the para-Bombay blood group revealing two novel alleles in the FUT1 gene.Challenges of multiple mutations in individual patients with haemophilia.Severe and moderate haemophilia A and B in US females.Genetic diagnosis in Hemophilia A from southern China: five novel mutations and one preimplantation genetic analysis.A hemophilic son of a hemophiliac: did my son inherit my hemophilia?Investigation of inflicted injury in a young girl reveals mild haemophilia A and Turner's syndrome.Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.Discordant haemophilia A in male siblings due to a de novo mutation on a familial missense mutant allele.
P2860
Q28660473-814A5635-3D94-4344-B076-C7025B31F473Q30414362-548C2921-5B7C-4EE8-B6BD-5D0FA7D78896Q33345045-BB9D9DE5-E03D-484F-843C-27057E2F7D99Q34285570-7ED67F1D-2F5C-4BEF-AC0B-867F73FCBB69Q35434470-072C65CA-9A40-4453-B322-ECFB4B61DCA8Q37822885-752E6CCB-3D64-44F9-B48D-BB7F7EAED960Q42236596-7E2949FB-CE3E-4E6D-80CC-45B1FF76DF3EQ45862031-D429DE30-405B-414B-8E4A-FFB81E891CB5Q45865301-002FDDA9-42DC-42E8-BB02-BE56407C8DEDQ45871327-829C0C62-77FC-4741-BF23-BB1D0365F6E9Q45879190-A125A832-58F1-4048-8CAE-11C9C3F9F504Q45885448-516C8950-E512-473C-93E2-559E674508F2
P2860
Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Female hemophilia A heterozygo ...... sense mutation of factor VIII.
@en
Female hemophilia A heterozygo ...... sense mutation of factor VIII.
@nl
type
label
Female hemophilia A heterozygo ...... sense mutation of factor VIII.
@en
Female hemophilia A heterozygo ...... sense mutation of factor VIII.
@nl
prefLabel
Female hemophilia A heterozygo ...... sense mutation of factor VIII.
@en
Female hemophilia A heterozygo ...... sense mutation of factor VIII.
@nl
P2093
P2860
P921
P1476
Female hemophilia A heterozygo ...... sense mutation of factor VIII.
@en
P2093
P2860
P304
P356
10.1111/J.1538-7836.2006.02105.X
P577
2006-06-27T00:00:00Z