(Q84567578)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19760264%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19760264%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Véronique Picard

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19760264%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Jian-Min Chen

2

1 reference

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7 February 2020

Brigitte Tardy

3

1 reference

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7 February 2020

Marie-Françoise Aillaud

4

1 reference

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7 February 2020

Christine Boiteux-Vergnes

5

1 reference

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7 February 2020

Marie Dreyfus

6

1 reference

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7 February 2020

Joseph Emmerich

7

1 reference

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7 February 2020

Cécile Lavenu-Bombled

8

1 reference

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7 February 2020

Ulrike Nowak-Göttl

9

1 reference

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7 February 2020

Nathalie Trillot

10

1 reference

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7 February 2020

Martine Aiach

11

1 reference

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7 February 2020

Martine Alhenc-Gelas

12

1 reference

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7 February 2020

publication date

17 September 2009

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7 February 2020

1 reference

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7 February 2020

volume

127

1 reference

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7 February 2020

page(s)

45-53

1 reference

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7 February 2020

issue

1

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00439-009-0742-6

7 February 2020

exact match

0 references

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12 December 2020

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12 December 2020

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12 December 2020

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Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency--partial/complete deletions and rearrangement of the antithrombin gene

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12 December 2020

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12 December 2020

Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography.

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12 December 2020

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12 December 2020

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12 December 2020

Antithrombin Dublin (-3 Val----Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site

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12 December 2020

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12 December 2020

Molecular genetic survey of 16 kindreds with hereditary antithrombin III deficiency

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12 December 2020

Intrachromosomal serial replication slippage intransgives rise to diverse genomic rearrangements involving inversions

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12 December 2020

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12 December 2020

Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis.

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12 December 2020

Partial deletion of an antithrombin III allele in a kindred with a type 1 deficiency

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12 December 2020

Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency

1 reference

12 December 2020

Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene

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12 December 2020

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1 reference

12 December 2020

Antithrombin cambridge II (Ala384Ser): clinical, functional and haplotype analysis of 18 families

1 reference

12 December 2020

Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA)

1 reference

12 December 2020