Genetic characterization of myeloperoxidase deficiency in Italy (Q44860243)

6 December 2017

Genetic characterization of myeloperoxidase deficiency in Italy (English)

1 reference

6 December 2017

0 references

5

1 reference

6 December 2017

Caterina Marchetti

1

1 reference

6 December 2017

Pierluigi Patriarca

series ordinal

2

1 reference

6 December 2017

G Pietro Solero

series ordinal

3

1 reference

6 December 2017

Francisco E Baralle

series ordinal

4

1 reference

6 December 2017

1 May 2004

1 reference

6 December 2017

1 reference

6 December 2017

23

1 reference

6 December 2017

5

1 reference

6 December 2017

496-505

1 reference

Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping

6 December 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

Myeloperoxidase deficiency manifesting as pustular candidal dermatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

Myeloperoxidase deficiency: prevalence and clinical significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

Alternative splicing: multiple control mechanisms and involvement in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

Leukocyte myeloperoxidase deficiency and diabetes mellitus associated with Candida albicans liver abscess

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

The individual regulation of granule protein mRNA levels during neutrophil maturation explains the heterogeneity of neutrophil granules.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

Incidence of myeloperoxidase deficiency in an area of northern Italy: histochemical, biochemical and functional studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

X-ray crystal structure and characterization of halide-binding sites of human myeloperoxidase at 1.8 A resolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

An evaluation of beta-turn prediction methods.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

Leukocyte myeloperoxidase deficiency and disseminated candidiasis: the role of myeloperoxidase in resistance to Candida infection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

Biochemical and immunologic analysis of hereditary myeloperoxidase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

Impact of missense mutations on biosynthesis of myeloperoxidase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

Abnormal mRNA for argininosuccinate synthetase in citrullinaemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

X-ray crystal structure of canine myeloperoxidase at 3 A resolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20027

7 January 2021

Identifiers

DOI

10.1002/HUMU.20027

1 reference

6 December 2017

1 reference