Mild haemophilia A in a female patient with a large X-chromosomal deletion and a missense mutation in the F8 gene--a case report.

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F8 gene: embedded in a region of genomic instability representing a hotspot of complex rearrangements.

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Mild haemophilia A in a female patient with a large X-chromosomal deletion and a missense mutation in the F8 gene--a case report.

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2013 nî lūn-bûn

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Mild haemophilia A in a female ...... in the F8 gene--a case report.

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Mild haemophilia A in a female ...... in the F8 gene--a case report.

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Mild haemophilia A in a female ...... in the F8 gene--a case report.

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Mild haemophilia A in a female ...... in the F8 gene--a case report.

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Mild haemophilia A in a female ...... in the F8 gene--a case report.

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Mild haemophilia A in a female ...... in the F8 gene--a case report.

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Mild haemophilia A in a female ...... in the F8 gene--a case report.

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C R Müller

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I Nanda

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J Oldenburg

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S Rost

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V Aumann

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P2860

X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation

Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion.

Molecular characterization of female hemophilia A by multiplex ligation-dependent probe amplification analysis and X-chromosome inactivation study.

Molecular mechanisms underlying hemophilia A phenotype in seven females.

Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser.

Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2).

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

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scholarly article

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10.1111/HAE.12190

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2013-05-28T00:00:00Z

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hemophilia

hemophilia A

Mild haemophilia A in a female patient with a large X-chromosomal deletion and a missense mutation in the F8 gene--a case report.

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P2860

P2860

Mild haemophilia A in a female patient with a large X-chromosomal deletion and a missense mutation in the F8 gene--a case report.

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