Eun Ha Lee Yeun Hee Kim Jin Soon Hwang Sung Hwan Kim
10.3346/jkms.2010.25.1.172
J Korean Med Sci
2010 Jan;25(1):172-5.
mutation neurologic manifestations non-type i cystinuria slc7a9
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/20052367/
Amino Acid Transport Systems, Basic / genetics Ataxia / genetics Cystinuria / genetics Intellectual Disability / genetics Mutation, Missense
Amino Acid Transport Systems, Basic / genetics Ataxia / genetics Cystinuria / genetics Intellectual Disability / genetics Mutation, Missense Case Reports Research Support, Non-U.S. Gov't Adolescent Amino Acid Substitution Amino Acids / urine Ataxia / complications Ataxia / diagnosis Base Sequence Cystine / blood Cystinuria / complications Cystinuria / diagnosis Humans Intellectual Disability / complications Intellectual Disability / diagnosis Male Pedigree Republic of Korea Amino Acid Transport Systems, Basic Amino Acids SLC7A9 protein, human Cystine
PMC2800027
20052367
Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene
2010