(Q45871662)

17 December 2017

title

A Line 1 insertion in the Factor IX gene segregates with mild hemophilia B in dogs (English)

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17 December 2017

main subject

hemophilia

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coagulation factor IX

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hemophilia B

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author name string

Marjory B Brooks

1

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17 December 2017

Weikuan Gu

2

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17 December 2017

Jennifer L Barnas

3

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17 December 2017

Jharna Ray

4

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17 December 2017

Kunal Ray

5

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17 December 2017

publication date

1 November 2003

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17 December 2017

number of pages

8

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inferred from page(s)

published in

Mammalian Genome

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17 December 2017

volume

14

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17 December 2017

issue

11

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17 December 2017

page(s)

788-795

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17 December 2017

https://scigraph.springernature.com/pub.10.1007/s00335-003-2290-z

exact match

0 references

cites work

Common origin of transmissible venereal tumors (TVT) in dogs

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements

1 reference

12 December 2020

Analysis of major repetitive DNA sequences in the dog (Canis familiaris) genome

1 reference

12 December 2020

Complete deletion of factor IX gene and inhibition of factor IX activity in a labrador retriever with hemophilia B.

1 reference

12 December 2020

Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis

1 reference

12 December 2020

An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness.

1 reference

12 December 2020

Inherited coagulation disorders

1 reference

12 December 2020

Conservation throughout mammalia and extensive protein-encoding capacity of the highly repeated DNA long interspersed sequence one.

1 reference

12 December 2020

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

1 reference

12 December 2020

A polymorphic (TTTA)n tandem repeat in an intron of the canine factor IX gene

1 reference

12 December 2020

Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.

1 reference

12 December 2020

Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations

1 reference

12 December 2020

Isolation and characterization of canine factor IX

1 reference

12 December 2020

Genomic characterization of recent human LINE-1 insertions: evidence supporting random insertion

1 reference

12 December 2020

Canine hemophilia B resulting from a point mutation with unusual consequences

1 reference

12 December 2020

A deletion mutation causes hemophilia B in Lhasa Apso dogs

1 reference

12 December 2020

Haemophilia B carrier detection by factor IX:C analysis; no impact of the type of mutation or severity of disorder

1 reference

12 December 2020

The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element.

1 reference

12 December 2020

A review of canine inherited bleeding disorders: biochemical and molecular strategies for disease characterization and carrier detection

1 reference

12 December 2020

Molecular basis of hemophilia

1 reference

12 December 2020

Two distinct mutations cause severe hemophilia B in two unrelated canine pedigrees.

1 reference

12 December 2020

Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity

1 reference

12 December 2020

The molecular pathology of haemophilia B. Fourth Wellcome Trust lecture

1 reference

12 December 2020

Molecular biology of the hemophilias

1 reference

12 December 2020

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

1 reference

12 December 2020

Exon shuffling in retrospect

1 reference

12 December 2020

Twin priming: a proposed mechanism for the creation of inversions in L1 retrotransposition

1 reference

12 December 2020

Haemophilia B: database of point mutations and short additions and deletions--eighth edition

1 reference

12 December 2020

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

12 December 2020

Genetics. L1 retrotransposons shape the mammalian genome

1 reference

12 December 2020

10.1007/S00335-003-2290-Z

Identifiers

DOI

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17 December 2017

Dimensions Publication ID

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1 reference

17 December 2017