No abstract available
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Substitution / genetics
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Amino Acid Transport Systems, Basic*
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Asparagine / genetics
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Carrier Proteins / genetics*
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Cysteine / genetics
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Cysteine / urine
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Cystinuria / genetics*
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Female
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Genes, Recessive
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Homozygote
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Humans
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Male
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Membrane Glycoproteins / genetics*
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Mutation, Missense / genetics
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Point Mutation / genetics
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Sequence Deletion / genetics
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Threonine / genetics
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Valine / genetics
Substances
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Amino Acid Transport Systems, Basic
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Carrier Proteins
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Membrane Glycoproteins
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SLC7A9 protein, human
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Threonine
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Asparagine
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Valine
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Cysteine