(Q71345378)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739976%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

title

Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739976%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference

1

1 reference

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18 October 2019

Luigi Bisceglia

5

1 reference

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18 October 2019

author name string

M Bruno

2

1 reference

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18 October 2019

G Bonetti

3

1 reference

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18 October 2019

D Cosseddu

4

1 reference

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18 October 2019

A Ponzone

6

1 reference

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18 October 2019

I Dianzani

7

1 reference

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18 October 2019

publication date

1 January 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739976%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

18 October 2019

published in

1 reference

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18 October 2019

volume

19

1 reference

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18 October 2019

issue

2

1 reference

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18 October 2019

page(s)

243-245

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf01799440

18 October 2019

exact match

0 references

cites work

Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes

1 reference

12 December 2020

Prospective analysis and classification of patients with cystinuria identified in a newborn screening program

1 reference

12 December 2020

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799440

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739976%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference