Associated Papers
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
28812535 (PubMed )
Supplement: 12864_2017_3913_MOESM1_ESM.xlsx › Table_S5
Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.
Chin E et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.
Eggermann T
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: F9. Disease: Haemophilia B.
Niazi G et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: SLC7A9. Disease: Cystinuria.
Eggermann T
Human Genetics, 2009
Molecular physiology of the insect K-activated amino acid transporter 1 (KAAT1) and cation-anion activated amino acid transporter/channel 1 (CAATCH1) in the light of the structure of the homologous protein LeuT.
Castagna M et al.
Insect Molecular Biology, 2009
Select a paper to view details