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

W. L. Gitomer, B. Y. Reed, C. Y. Pak

Research output: Contribution to journalArticle

3 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)390
Number of pages1
JournalHuman Mutation
Volume15
Issue number4
StatePublished - Apr 2000

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Basic Amino Acid Transport Systems
Cystinuria
Recessive Genes
Sequence Deletion
Asparagine
Membrane Glycoproteins
Homozygote
Valine
Missense Mutation
Threonine
Amino Acid Substitution
Point Mutation
Cysteine
Carrier Proteins
Mutation
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics. / Gitomer, W. L.; Reed, B. Y.; Pak, C. Y.

In: Human Mutation, Vol. 15, No. 4, 04.2000, p. 390.

Research output: Contribution to journalArticle

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