Associated Papers
Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.
Tostivint I et al.
Clinical Genetics, 2017
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
Gaildrat P et al.
Molecular Genetics & Genomic Medicine, 2017
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
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