Literature DB >> 5929463

Genetic heterogeneity in cystinuria: evidence for allelism.

L E Rosenberg, J L Durant, I Albrecht.   

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Year:  1966        PMID： 5929463

Source DB:  PubMed          Journal:  Trans Assoc Am Physicians        ISSN： 0066-9458


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  8 in total

1.  Cystinuric heterozygotes and cystine-loading.

Authors:  R Minami; K Olek; P Wardenbach
Journal:  Humangenetik       Date:  1975-09-10

2.  Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q.

Authors:  R Wartenfeld; E Golomb; G Katz; S J Bale; B Goldman; M Pras; D L Kastner; E Pras
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

3.  The molecular basis of cystinuria: the role of the rBAT gene.

Authors:  M Palacín; C Mora; J Chillarón; M J Calonge; R Estévez; D Torrents; X Testar; A Zorzano; V Nunes; J Purroy; X Estivill; P Gasparini; L Bisceglia; L Zelante
Journal:  Amino Acids       Date:  1996-06       Impact factor: 3.520

4.  Biochemical and genetic studies in cystinuria: observations on double heterozygotes of genotype I-II.

Authors:  C L Morin; M W Thompson; S H Jackson; A Sass-Kortsak
Journal:  J Clin Invest       Date:  1971-09       Impact factor: 14.808

5.  Mutations in the SLC3A1 transporter gene in cystinuria.

Authors:  E Pras; N Raben; E Golomb; N Arber; I Aksentijevich; J M Schapiro; D Harel; G Katz; U Liberman; M Pras
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

6.  Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

Authors:  L Bisceglia; M J Calonge; A Totaro; L Feliubadaló; S Melchionda; J García; X Testar; M Gallucci; A Ponzone; L Zelante; A Zorzano; X Estivill; P Gasparini; V Nunes; M Palacín
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

7.  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

8.  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
  8 in total

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