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Article

Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia�A

1 Sept 2003

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 12884004
DOI: 10.1007/s00439-003-0986-5

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Related research

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Research trail→

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Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia�APMID 12884004Read ↗

Is Alu-mediated recombination an important cause of hemophilia?Semantic proximity Read ↗

Haemophilia B Due to a De Novo Insertion of a Human-Specific Alu Subfamily Member within the Coding Region of the Factor IX GeneSemantic proximity Read ↗

Self-healing Collodion Baby: A New Mutation in the ALOX12B Gene.Semantic proximity Read ↗

The first reported case of Menkes disease caused by an Alu insertion mutation.Semantic proximity Read ↗

Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy.Semantic proximity Read ↗

Unusual sequences of two old, inactive human Alu repeats.Semantic proximity Read ↗

Deep intronic F8 c.5999-27A>G variant causes exon 19 skipping and leads to moderate hemophilia A.Semantic proximity Read ↗

Exonization of AluYa5 in the human ACE gene requires mutations in both 3' and 5' splice sites and is facilitated by a conserved splicing enhancer.Semantic proximity Read ↗

De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing.Semantic proximity Read ↗

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14Semantic proximity Read ↗

Identification of new F8 deep intronic variations in patients with haemophilia A.Semantic proximity Read ↗

The human-specific Yp11.2/Xq21.3 homology block encodes a potentially functional testis-specific TGIF-like retroposonSemantic proximity Read ↗

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