(Q44068861)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12124727%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency (English)

1 reference

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holocarboxylase synthetase deficiency

11 November 2019

main subject

0 references

author

Amelia Morrone

1

1 reference

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11 November 2019

author name string

Malvagia S

2

1 reference

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11 November 2019

Donati MA

3

1 reference

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11 November 2019

Funghini S

4

1 reference

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11 November 2019

Ciani F

5

1 reference

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11 November 2019

Pela I

6

1 reference

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11 November 2019

Boneh A

7

1 reference

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11 November 2019

Peters H

8

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11 November 2019

Pasquini E

9

1 reference

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11 November 2019

Zammarchi E

10

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11 November 2019

language of work or name

1 reference

1 July 2002

1 reference

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American Journal of Medical Genetics Part A

11 November 2019

published in

1 reference

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11 November 2019

volume

111

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11 November 2019

issue

1

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11 November 2019

page(s)

10-18

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Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10532

Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10532

Expression in Escherichia coli of N- and C-terminally deleted human holocarboxylase synthetase. Influence of the N-terminus on biotinylation and identification of a minimum functional protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10532

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10532

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10532

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10532

Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10532

The DNA sequence of human chromosome 21

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10532

Function of a conserved sequence motif in biotin holoenzyme synthetases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10532

Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10532

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10532

Escherichia coli biotin holoenzyme synthetase/bio repressor crystal structure delineates the biotin- and DNA-binding domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10532

21 January 2018

Identifiers

DOI

10.1002/AJMG.10532

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12124727%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference