SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance (Q28138872)

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scientific article (publication date: March 1999)

Language	Label	Description	Also known as
English	SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance	scientific article (publication date: March 1999)

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scholarly article

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SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance (English)

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lysinuric protein intolerance

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Giuseppe Borsani

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G Borsani

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M T Bassi

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M P Sperandeo

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A De Grandi

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A Buoninconti

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M Riboni

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M Manzoni

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B Incerti

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A Pepe

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G Andria

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A Ballabio

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G Sebastio

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language of work or name

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publication date

March 1999

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Nature Genetics

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21

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3

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297-301

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Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14

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https://api.crossref.org/works/10.1038%2F6815

7 January 2021

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Genetic homogeneity of lysinuric protein intolerance

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https://api.crossref.org/works/10.1038%2F6815

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Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course

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https://api.crossref.org/works/10.1038%2F6815

7 January 2021

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Molecular biology of mammalian plasma membrane amino acid transporters

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https://api.crossref.org/works/10.1038%2F6815

7 January 2021

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Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance

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https://api.crossref.org/works/10.1038%2F6815

7 January 2021

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The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome

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https://api.crossref.org/works/10.1038%2F6815

7 January 2021

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The amino acid transport system y+L/4F2hc is a heteromultimeric complex.

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https://api.crossref.org/works/10.1038%2F6815

7 January 2021

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Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family

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https://api.crossref.org/works/10.1038%2F6815

7 January 2021

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A physical map of 30,000 human genes

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Transporters for cationic amino acids in animal cells: discovery, structure, and function

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https://api.crossref.org/works/10.1038%2F6815

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dbEST--database for "expressed sequence tags"

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https://api.crossref.org/works/10.1038%2F6815

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How to get the best of dbEST

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'DNA Strider': a 'C' program for the fast analysis of DNA and protein sequences on the Apple Macintosh family of computers

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CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

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https://api.crossref.org/works/10.1038%2F6815

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Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

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https://api.crossref.org/works/10.1038%2F6815

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Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance

1 reference

https://api.crossref.org/works/10.1038%2F6815

7 January 2021

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Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family

1 reference

https://api.crossref.org/works/10.1038%2F6815

7 January 2021

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