(Q42675670)

4 November 2017

title

Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion (English)

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4 November 2017

10

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4 November 2017

Gabriella Esposito

1

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4 November 2017

Maria Rosaria Imperato

2

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4 November 2017

Luigi Ieno

3

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4 November 2017

Rosa Sorvillo

4

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4 November 2017

Vincenzo Benigno

5

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4 November 2017

Giancarlo Parenti

6

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4 November 2017

Rossella Parini

7

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4 November 2017

Luigi Vitagliano

8

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4 November 2017

Adriana Zagari

9

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4 November 2017

publication date

16 November 2010

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4 November 2017

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4 November 2017

volume

31

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4 November 2017

issue

12

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4 November 2017

page(s)

1294-1303

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Hereditary fructose intolerance

4 November 2017

cites work

1 reference

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Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance

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Null alleles of the aldolase B gene in patients with hereditary fructose intolerance

21 January 2018

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21 January 2018

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21 January 2018

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Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population

21 January 2018

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21 January 2018

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A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia

21 January 2018

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Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

21 January 2018

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Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis

21 January 2018

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Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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A hydrophobic pocket in the active site of glycolytic aldolase mediates interactions with Wiskott-Aldrich syndrome protein

21 January 2018

1 reference

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21 January 2018

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Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21359

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene

21 January 2018

1 reference

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GROMACS: fast, flexible, and free

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21359

A possible case of transient hereditary fructose intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21359

inferred from DOI database lookup

7 January 2021

based on heuristic

The genetic consequences of our sweet tooth

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21359

inferred from DOI database lookup

7 January 2021

based on heuristic

Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21359

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21359

1 reference

4 November 2017

1 reference