Literature DB >> 8739976

Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients.

L de Sanctis1, M Bruno, G Bonetti, D Cosseddu, L Bisceglia, A Ponzone, I Dianzani.   

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Year:  1996        PMID： 8739976     DOI： 10.1007/bf01799440

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  5 in total

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

Authors:  J Bertran; A Werner; J Chillarón; V Nunes; J Biber; X Testar; A Zorzano; X Estivill; H Murer; M Palacín
Journal:  J Biol Chem       Date:  1993-07-15       Impact factor: 5.157

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

Authors:  P R Goodyer; C Clow; T Reade; C Girardin
Journal:  J Pediatr       Date:  1993-04       Impact factor: 4.406

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

Authors:  M J Calonge; V Volpini; L Bisceglia; F Rousaud; L de Sanctis; E Beccia; L Zelante; X Testar; A Zorzano; X Estivill
Journal:  Proc Natl Acad Sci U S A       Date:  1995-10-10       Impact factor: 11.205

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

Authors:  P Gasparini; M J Calonge; L Bisceglia; J Purroy; I Dianzani; A Notarangelo; F Rousaud; M Gallucci; X Testar; A Ponzone
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

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

Authors:  M J Calonge; P Gasparini; J Chillarón; M Chillón; M Gallucci; F Rousaud; L Zelante; X Testar; B Dallapiccola; F Di Silverio
Journal:  Nat Genet       Date:  1994-04       Impact factor: 38.330
  5 in total
  1 in total

1.  Cloning and functional expression of a cDNA from rat jejunal epithelium encoding a protein (4F2hc) with system y+L amino acid transport activity.

Authors:  S Y Yao; W R Muzyka; J F Elliott; C I Cheeseman; J D Young
Journal:  Biochem J       Date:  1998-03-01       Impact factor: 3.857
  1 in total

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