The high frequency of the -6G-->A factor IX promoter mutation is the result both of a founder effect and recurrent mutation at a CpG dinucleotide.
about
Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiencyA CpG mutational hotspot in a ONECUT binding site accounts for the prevalent variant of hemophilia B Leyden.Haemophilia B (sixth edition): a database of point mutations and short additions and deletionsEvolution of prenatal diagnostic techniques from phenotypic diagnosis to gene arrays: its likely impact on prenatal diagnosis of hemophilia.Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.
P2860
The high frequency of the -6G-->A factor IX promoter mutation is the result both of a founder effect and recurrent mutation at a CpG dinucleotide.
description
1995 nî lūn-bûn
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1995年の論文
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1995年学术文章
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1995年学术文章
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1995年学术文章
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1995年学术文章
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1995年学术文章
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1995年学术文章
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1995年學術文章
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1995年學術文章
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name
The high frequency of the -6G- ...... utation at a CpG dinucleotide.
@en
The high frequency of the -6G- ...... utation at a CpG dinucleotide.
@nl
type
label
The high frequency of the -6G- ...... utation at a CpG dinucleotide.
@en
The high frequency of the -6G- ...... utation at a CpG dinucleotide.
@nl
prefLabel
The high frequency of the -6G- ...... utation at a CpG dinucleotide.
@en
The high frequency of the -6G- ...... utation at a CpG dinucleotide.
@nl
P2093
P2860
P1476
The high frequency of the -6G- ...... utation at a CpG dinucleotide.
@en
P2093
Bolton-Maggs PH
Brownlee GG
Figueiredo MS
Winship PR
P2860
P304
P356
10.1111/J.1365-2141.1995.TB08388.X
P407
P577
1995-03-01T00:00:00Z