High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis. (Q37649522)

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12 March 2020

title

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis (English)

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12 March 2020

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3

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Koussay Dellagi

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Dominique Stoppa-Lyonnet

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object named as

Dominique S Lyonnet

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Mongia Hachicha

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author name string

Ahlem Amouri

1

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Faten Talmoudi

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Catherine D d'Enghien

4

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Mariem B Rekaya

5

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Ines Allegui

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Héla Azaiez

7

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Rym Kefi

8

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Ahlem Abdelhak

9

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Sondes H Meseddi

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Lamia Torjemane

11

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Monia Ouederni

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Fethi Mellouli

13

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Héla B Abid

14

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Lamia Aissaoui

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Mohamed Bejaoui

16

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Tarek B Othmen

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Jean Soulier

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Sonia Abdelhak

22

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Tunisian Fanconi

23

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publication date

5 February 2014

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Molecular genetics & genomic medicine

12 March 2020

published in

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volume

2

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issue

2

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page(s)

160-165

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Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia

12 March 2020

cites work

1 reference

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Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

23 August 2017

1 reference

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A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites

23 August 2017

1 reference

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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

23 August 2017

1 reference

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X-linked inheritance of Fanconi anemia complementation group B

23 August 2017

1 reference

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Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

23 August 2017

1 reference

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High frequency of large intragenic deletions in the Fanconi anemia group A gene

23 August 2017

1 reference

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A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews

23 August 2017

1 reference

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23 August 2017

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Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation

6 September 2017

1 reference

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Diagnosis of fanconi anemia by diepoxybutane analysis

14 September 2017

1 reference

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Creation and report of the Tunisian Fanconi Anemia Registry (TFAR)

25 June 2018

1 reference

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Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.

1 September 2018

1 reference

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A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

1 September 2018

1 reference

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Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

1 September 2018

1 reference

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Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia

1 September 2018

1 reference

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1 September 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/24689079

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MGG3.55

1 reference

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12 March 2020

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12 March 2020

PubMed publication ID

24689079

1 reference

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