Multiplex ligation-dependent probe amplification as first mutation screening for large deletions and duplications in haemophilia.

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Multiplex ligation-dependent probe amplification as first mutation screening for large deletions and duplications in haemophilia.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Multiplex ligation-dependent p ...... d duplications in haemophilia.

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Multiplex ligation-dependent p ...... d duplications in haemophilia.

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label

Multiplex ligation-dependent p ...... d duplications in haemophilia.

@en

Multiplex ligation-dependent p ...... d duplications in haemophilia.

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Multiplex ligation-dependent p ...... d duplications in haemophilia.

@en

Multiplex ligation-dependent p ...... d duplications in haemophilia.

@nl

P1476

Multiplex ligation-dependent p ...... d duplications in haemophilia.

@en

P2093

D Belvini

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G Tagariello

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P Radossi

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R Salviato

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P2860

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.

An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B.

Hemophilia B: molecular pathogenesis and mutation analysis.

Mutation analysis of a cohort of US patients with hemophilia B.

Utility of multiplex ligation-dependent probe amplification (MLPA) for hemophilia mutation screening.

Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis.

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

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e124-e132

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scholarly article

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10.1111/HAE.13143

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P478

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P577

2017-02-15T00:00:00Z

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28205367

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P921

hemophilia