Last Posted: May 25, 2007
- New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
Font-Llitjós M, et al. Journal of medical genetics 2005 1 (1) 58-68
- Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene.
Stride A, et al. Diabetic medicine : a journal of the British Diabetic Association 2004 8 (8) 928-30
- The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.
Schmidt C, et al. Urological research 2004 5 (2) 75-8
- ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis.
Visapää Ilona, et al. American journal of medical genetics 2002 5 (3) 202-5
- The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria.
Bingham C, et al. Diabetes 2001 9 (9) 2047-52
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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