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1 .
Identification of a New Locus for Medullary Cystic Disease, on Chromosome 16p12
저자
by
Andrea Ballabio
;
Rosario Maiorca
;
Gian Marco Ghiggeri
;
Gianluca Caridi
;
Maurizio De Fusco
, et al.
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The American Journal of Human Genetics
. 64:1655-1660
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7 .
Detection of AGXT bgene mutations by denaturing high-performance liquid chromatography for diagnosis of hyperoxaluria type 1
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by
Martino Marangella
;
Fiorella Florian
;
Sergio Crovella
;
Patricia Momigliano-Richiardi
;
M. Lessi
, et al.
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7 .
Gene symbol: AGXT. Disease: primary hyperoxaluria type I
저자
by
S. Crovella
;
Gina Mazzola
;
Doroti Pirulli
;
Fiorella Florian
;
Daniela Puzzer
, et al.
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Scopus-Elsevier
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7 .
Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus
저자
by
Gianluca Caridi
;
Antonio Amoroso
;
Battista Fabio Viola
;
Gian Marco Ghiggeri
;
Rosanna Gusmano
, et al.
소스
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
. 13(10)
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7 .
AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria
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by
Martino Marangella
;
Andrea Spanò
;
Silvana Savoldi
;
Michele Boniotto
;
Fiorella Florian
, et al.
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7 .
Flexibility of melting temperature assay for rapid detection of insertions, deletions, and single-point mutations of the AGXT gene responsible for type 1 primary hyperoxaluria
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by
Sergio Crovella
;
Doroti Pirulli
;
Daniela Puzzer
;
Antonio Amoroso
;
Andrea Spanò
, et al.
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7 .
Rapid method for detection of extra (TA) in the promoter of the bilirubin-UDP-glucuronosyl transferase 1 gene associated with Gilbert syndrome
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by
Patricia Momigliano-Richiardi
;
Daniela Puzzer
;
Claudio Tiribelli
;
Doroti Pirulli
;
Mara Giordano
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