Last Posted: Jun 19, 2015
- ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.
Xu Y, et al. Clinical genetics 2015 5
- Clinical utility gene card for: Alström Syndrome - update 2013.
- Identification of a glutamic acid repeat polymorphism of ALMS1 as a novel genetic risk marker for early-onset myocardial infarction by genome-wide linkage analysis.
Ichihara Sahoko, et al. Circulation. Cardiovascular genetics 2013 12 (6) 569-78
- Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
Marshall Jan D, et al. Human mutation 2007 11 (11) 1114-23
- Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population.
Patel S, et al. Diabetologia 2006 6 (6) 1209-13
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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