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Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
Am J Hum Genet. 2000 Jan;66(1):92-9. doi: 10.1086/302700.
Am J Hum Genet. 2000.
PMID: 10631139
Free PMC article.
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.
Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G.
Borsani G, et al. Among authors: buoninconti a.
Nat Genet. 1999 Mar;21(3):297-301. doi: 10.1038/6815.
Nat Genet. 1999.
PMID: 10080183
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Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report.
Sperandeo MP, Buoninconti A, Passariello A, Scala I, Adami A, Lauteala T, Mykkänen J, Andria G, Sebastio G.
Sperandeo MP, et al. Among authors: buoninconti a.
Prenat Diagn. 1999 Aug;19(8):771-3.
Prenat Diagn. 1999.
PMID: 10451527
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The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.
de Franchis R, Buoninconti A, Mandato C, Pepe A, Sperandeo MP, Del Gado R, Capra V, Salvaggio E, Andria G, Mastroiacovo P.
de Franchis R, et al. Among authors: buoninconti a.
J Med Genet. 1998 Dec;35(12):1009-13. doi: 10.1136/jmg.35.12.1009.
J Med Genet. 1998.
PMID: 9863598
Free PMC article.
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SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family.
Bassi MT, Sperandeo MP, Incerti B, Bulfone A, Pepe A, Surace EM, Gattuso C, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Andria G, Ballabio A, Borsani G, Sebastio G.
Bassi MT, et al. Among authors: buoninconti a.
Genomics. 1999 Dec 1;62(2):297-303. doi: 10.1006/geno.1999.5978.
Genomics. 1999.
PMID: 10610726
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Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene.
Titomanlio L, De Brasi D, Buoninconti A, Sperandeo MP, Pepe A, Andria G, Sebastio G.
Titomanlio L, et al. Among authors: buoninconti a.
Clin Genet. 2004 Feb;65(2):156-7. doi: 10.1111/j.0009-9163.2004.00204.x.
Clin Genet. 2004.
PMID: 14984477
No abstract available.
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