Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics

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Veröffentlicht in:	Human mutation 2000-04, Vol.15 (4), p.390-390
Hauptverfasser:	Gitomer, William L., Reed, Berenice Y., Pak, Charles Y.C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution - genetics Amino Acid Transport Systems, Basic Asparagine - genetics Carrier Proteins - genetics Cysteine - genetics Cysteine - urine Cystinuria - genetics Female Genes, Recessive Homozygote Humans Male Membrane Glycoproteins - genetics Mutation, Missense - genetics Point Mutation - genetics Sequence Deletion - genetics SLC3A1 Space life sciences Threonine - genetics type I cystinuria Valine - genetics
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