Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection.

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Biased exon/intron distribution of cryptic and de novo 3' splice sites Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations.Genotype and phenotype of haemophilia A in Thai patients.

P2860

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P2860

Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection.

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http://www.wikidata.org/entity/Q45877614

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2001 nî lūn-bûn

@nan

2001年の論文

@ja

2001年学术文章

@wuu

2001年学术文章

@zh-cn

2001年学术文章

@zh-hans

2001年学术文章

@zh-my

2001年学术文章

@zh-sg

2001年學術文章

@yue

2001年學術文章

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2001年學術文章

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name

Mutation causing exon 15 skipp ...... for direct mutation detection.

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Mutation causing exon 15 skipp ...... for direct mutation detection.

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type

Item

label

Mutation causing exon 15 skipp ...... for direct mutation detection.

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Mutation causing exon 15 skipp ...... for direct mutation detection.

@nl

prefLabel

Mutation causing exon 15 skipp ...... for direct mutation detection.

@en

Mutation causing exon 15 skipp ...... for direct mutation detection.

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P1476

Mutation causing exon 15 skipp ...... for direct mutation detection.

@en

P2093

Akkarapatumwong V

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Mahasandana C

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Oranwiroon S

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Pung-Amritt P

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Thanootarakul P

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Veerakul G

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Yenchitsomanus P

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P2860

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Illegitimate transcription: transcription of any gene in any cell type

Molecular etiology of factor VIII deficiency in hemophilia A.

The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4

A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.

Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients.

Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene.

Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.

Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.

P304

335-338

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scholarly article

P356

10.1046/J.1365-2516.2001.00507.X

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2001-05-01T00:00:00Z

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P698

11380640

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Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection.

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P2860

P2860

Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection.

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698