(Q45864127)

17 December 2017

title

Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A. (English)

1 reference

17 December 2017

0 references

0 references

Arupa Ganguly

1

1 reference

17 December 2017

Tanya Dunbar

2

1 reference

17 December 2017

Peiqin Chen

3

1 reference

17 December 2017

Lynn Godmilow

4

1 reference

17 December 2017

Tapan Ganguly

5

1 reference

17 December 2017

publication date

12 July 2003

1 reference

17 December 2017

published in

Human Genetics

1 reference

17 December 2017

volume

113

1 reference

17 December 2017

page(s)

348-352

1 reference

17 December 2017

issue

4

1 reference

17 December 2017

https://scigraph.springernature.com/pub.10.1007/s00439-003-0986-5

exact match

0 references

cites work

A new subfamily of recently retroposed human Alu repeats

1 reference

12 December 2020

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

1 reference

12 December 2020

Mobile genetic element activation and genotoxic cancer therapy: potential clinical implications

1 reference

12 December 2020

Integration of retroposable elements in mammals: selection of target sites.

1 reference

12 December 2020

Active Alu element "A-tails": size does matter

1 reference

12 December 2020

Alu insertion polymorphisms for the study of human genomic diversity

1 reference

12 December 2020

Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease

1 reference

12 December 2020

Multiplex analysis of two intragenic microsatellite repeat polymorphisms in the genetic diagnosis of haemophilia A.

1 reference

12 December 2020

Effects of Alu insertions on gene function.

1 reference

12 December 2020

A de novo Alu insertion results in neurofibromatosis type 1

1 reference

12 December 2020

Molecular genetics of coagulation factor VIII gene and haemophilia A.

1 reference

12 December 2020

An Alu insert as the cause of a severe form of hemophilia A.

1 reference

12 December 2020

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

1 reference

12 December 2020

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

12 December 2020

Targeting of human retrotransposon integration is directed by the specificity of the L1 endonuclease for regions of unusual DNA structure.

1 reference

12 December 2020

The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs.

1 reference

12 December 2020

Frequency of recent retrotransposition events in the human factor IX gene

1 reference

12 December 2020

Molecular etiology of factor VIII deficiency in hemophilia A

1 reference

12 December 2020

Identification of a novel large F9 gene mutation-an insertion of an Alu repeated DNA element in exon e of the factor 9 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation

1 reference

12 December 2020

Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses

1 reference

12 December 2020

Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene

1 reference

12 December 2020

Alu repeats and human genomic diversity

1 reference

12 December 2020

10.1007/S00439-003-0986-5

Identifiers

DOI

1 reference

17 December 2017

Dimensions Publication ID

0 references

1 reference

17 December 2017