(Q43270898)

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Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients

scientific article published in January 2010

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Europe PubMed Central

PubMed publication ID

17 November 2017

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients (English)

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

Luigi Bisceglia

1

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Europe PubMed Central

PubMed publication ID

17 November 2017

4

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Europe PubMed Central

PubMed publication ID

17 November 2017

author name string

Lucia Fischetti

2

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Europe PubMed Central

PubMed publication ID

17 November 2017

Patrizia De Bonis

3

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Europe PubMed Central

PubMed publication ID

17 November 2017

Bartolomeo Augello

5

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Europe PubMed Central

PubMed publication ID

17 November 2017

Pietro Stanziale

6

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Europe PubMed Central

PubMed publication ID

17 November 2017

Massimo Carella

7

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Europe PubMed Central

PubMed publication ID

17 November 2017

Leopoldo Zelante

8

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PubMed publication ID

17 November 2017

publication date

1 January 2010

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Europe PubMed Central

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17 November 2017

Molecular Genetics and Metabolism

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Europe PubMed Central

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17 November 2017

99

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Europe PubMed Central

PubMed publication ID

17 November 2017

1

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Europe PubMed Central

PubMed publication ID

17 November 2017

42-52

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Europe PubMed Central

PubMed publication ID

17 November 2017

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

SLC7A9 mutations in all three cystinuria subtypes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Mutation analysis of SLC7A9 in cystinuria patients in Sweden

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Mutations in the SLC3A1 Gene in Cystinuric Patients: Frequencies and Identification of a Novel Mutation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Cystinuria type I: identification of eight new mutations in SLC3A1.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA).

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Heterozygous cystinuria and urinary lithiasis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.001

7 January 2021

Identifiers

10.1016/J.YMGME.2009.09.001

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 November 2017

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