(Q79895427)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838140%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838140%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

author name string

Anthoula Chatzikyriakidou

1

1 reference

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26 December 2019

Nikolaos Sofikitis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838140%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Vasiliki Kalfakakou

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838140%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Konstantinos Siamopoulos

4

1 reference

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26 December 2019

Ioannis Georgiou

5

1 reference

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26 December 2019

publication date

13 July 2006

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26 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838140%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838140%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

issue

5

1 reference

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26 December 2019

page(s)

299-303

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838140%20AND%20SRC:MED&resulttype=core&format=json

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss

26 December 2019

cites work

1 reference

12 December 2020

Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuria

1 reference

12 December 2020

A survey of genetic and epigenetic variation affecting human gene expression

1 reference

12 December 2020

The ABCs of solute carriers: physiological, pathological and therapeutic implications of human membrane transport proteinsIntroduction

1 reference

12 December 2020

Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients

1 reference

12 December 2020

Treatment of cystinuria

1 reference

12 December 2020

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

1 reference

12 December 2020

Role of epistatic (modifier) genes in the modulation of the phenotypic diversity of sickle cell anemia.

1 reference

12 December 2020

Transient neonatal cystinuria

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion

1 reference

12 December 2020

Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.

1 reference

12 December 2020

A new screening method for cystinuria. A simple and safe screening kit

1 reference

12 December 2020

Amino acid difference formula to help explain protein evolution

1 reference

12 December 2020

Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL

1 reference

12 December 2020

Expanding the TRANSFAC database towards an expert system of regulatory molecular mechanisms

1 reference

12 December 2020

10.1007/S00240-006-0060-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16838140%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference