(Q61040724)

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Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aα-chain gene

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Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aα-chain gene (English)

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author name string

Silvia Spena

1

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Stefano Duga

2

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Rosanna Asselta

3

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Flora Peyvandi

4

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Chularatana Mahasandana

5

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Massimo Malcovati

6

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Maria Luisa Tenchini

7

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publication date

22 September 2004

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European Journal of Human Genetics

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12

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11

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891-898

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Fibrinogen structure and fibrin clot assembly

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Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion

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Rare coagulation deficiencies.

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Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aalpha -chain gene are not associated with the decay of the mutant mRNAs

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Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta -chain gene causing activation of cryptic splice sites

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Congenital afibrinogenaemia in a newborn infant due to a novel mutation in the fibrinogen aalpha gene

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Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family

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Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene

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Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion

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Identification of simultaneous mutation of fibrinogen alpha chain and protein C genes in a Japanese kindred.

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Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia

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Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene

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Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4.

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First patient with trisomy 21 accompanied by an additional der(4)(:p11 ? q11:) plus partial uniparental disomy 4p15-16

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Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy

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[Rapid physiological coagulation method in determination of fibrinogen]

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Sustained correction of the bleeding time in an afibrinogenaemic patient after infusion of fresh frozen plasma

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Uniparental disomies in unselected populations

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Mechanisms leading to uniparental disomy and their clinical consequences

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Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene

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Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease

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Characterization of the large deletion in the GALC gene found in patients with Krabbe disease

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Genomic integrity and the repair of double-strand DNA breaks

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Compilation of DNA strand exchange sites for non-homologous recombination in somatic cells

1 reference

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The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster

1 reference

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10.1038/SJ.EJHG.5201207

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