Search Results

Display Settings
Results per page: 10
Sort By: Relevance
Filter
  • 1-10 of  200 results for ""Cystinuria""

Your Filters

Subject : genetic mutation
Reset filters
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.

Subjects: *CYSTINURIA; *GENETIC mutation; *POLYMERASE chain reaction

  • Source: Journal of Genetics. Apr2011, Vol. 90 Issue 1, p157-159. 3p. 1 Chart, 1 Graph.

Record details

Read Online Read More Add to Saved list
×
Academic Journal

Clinical utility gene card for: Cystinuria.

Subjects: *CYSTINURIA; *AMINO acid metabolism disorders; *POINT mutation (Biology)

  • Source: European Journal of Human Genetics. Feb2012, Vol. 20 Issue 2, p1. 3p. 4 Charts.

Record details

Read Online Read More Add to Saved list
×
Academic Journal

Analysis of a 1-year-old cystinuric patient with recurrent renal stones.

Subjects: *CYSTINURIA; *AMINO acid metabolism disorders; *KIDNEY stones

  • Source: International Journal of Urology. Oct2006, Vol. 13 Issue 10, p1347-1349. 3p.

Record details

Read Online Read More Add to Saved list
×
Academic Journal

The genetic diversity of cystinuria in a UK population of patients.

Subjects: *CYSTINURIA; *GENETIC mutation; *GENOTYPESUNITED Kingdom

  • Source: BJU International. Jul2015, Vol. 116 Issue 1, p109-116. 8p.

Record details

Read Online Read More Add to Saved list
×
Academic Journal

Report of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study.

Subjects: *CYSTINURIA; *BIOCHEMISTRY; *CHROMOSOME abnormalitiesIRAN; MIDDLE East

  • Source: Journal of Research in Medical Sciences. Mar2017, Vol. 22, p1-3. 3p.

Record details

Read More Add to Saved list
×
Academic Journal

A Novel Mutation in SLC7A9 Gene in Cystinuria.

Subjects: *CYSTINURIA; *GENETIC mutation; *EXONS (Genetics)IRAN

  • Source: Iranian Journal of Kidney Diseases. Mar2017, Vol. 11 Issue 2, p138-141. 4p.

Record details

Read More Add to Saved list
×
Academic Journal

Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.

Subjects: CYSTINURIA; GENEALOGY; GENETIC techniques

  • Source: Pediatric Nephrology. Jan2014, Vol. 29 Issue 1, p155-159. 5p. 1 Diagram, 1 Chart.

Record details

Read Online Read More Add to Saved list
×
Academic Journal

A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.

Subjects: *CYSTINURIA; *GENETIC mutation; *CYSTINE

  • Source: Iranian Journal of Kidney Diseases. Jan2016, Vol. 10 Issue 1, p44-47. 4p.

Record details

Read More Add to Saved list
×
Academic Journal

Recurrent symptomatic urolithiasis in a patient with cystic fibrosis.

Subjects: METABOLIC disorder diagnosis; URINARY tract infections; METABOLIC disorders

  • Source: Pediatric Nephrology; Dec2024, Vol. 39 Issue 12, p3467-3469, 3p

Record details

Read More Add to Saved list
×
Academic Journal

MOLECULAR DIAGNOSTIC TESTS IDENTIFYING CARRIERS OF SLC3A1 AND SLC7A9 GENE MUTATIONS CAUSING CYSTINURIA IN DOMESTIC CAT-IN SILICO ANALYSIS.

Subjects: GENETIC mutation; DIAGNOSIS methods; PROTEIN conformation

  • Source: Folia Pomeranae Universitatis Technologiae Stetinensis Agricultura Alimentaria Piscaria et Zootechnica; 2023, Vol. 367 Issue 66, p35-48, 14p

Record details

Read More Add to Saved list
×
  • 1-10 of  200 results for ""Cystinuria""