Mutations in fucosidosis gene: a review (Q41063086)

26 September 2017

1 reference

title

Mutations in fucosidosis gene: a review (English)

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26 September 2017

1 reference

Tiberio G

1

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26 September 2017

Filocamo M

series ordinal

2

1 reference

26 September 2017

Gatti R

series ordinal

3

1 reference

26 September 2017

Durand P

series ordinal

4

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26 September 2017

1 January 1995

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Acta geneticae medicae et gemellologiae

26 September 2017

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26 September 2017

44

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26 September 2017

223-232

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26 September 2017

3-4

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A 5' splice site mutation in fucosidosis

26 September 2017

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001641

Relationship between ?-L-fucosidase deficiency in plasma and ?-L-fucosidase activity in leukocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001641

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001641

A single-base deletion mutation in a Turkish patient with fucosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001641

Fucosidosis: four new mutations and a new polymorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001641

Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001641

Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001641

7 January 2021

Another unusual case of fucosidosis

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001641

7 January 2021

Structure and sequence of the human α-l-fucosidase gene and pseudogene

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001641

7 January 2021

Fucosidosis in a Chinese girl

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001641

7 January 2021

Intrafamilial variability in fucosidosis

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001641

7 January 2021

A Gln-281 to Arg substitution in alpha-L-fucosidase is responsible for a common polymorphism detected by isoelectric focusing

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001641

7 January 2021

10.1017/S0001566000001641

Identifiers

DOI

1 reference

26 September 2017

1 reference