Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. [electronic resource]
Producer: 20090617Description: 662-5 p. digitalISSN:- 1552-4833
- Alleles
- Base Sequence
- Cardiomyopathy, Dilated -- genetics
- Cell Cycle Proteins
- Child
- Child, Preschool
- Codon, Nonsense
- Consanguinity
- DNA -- genetics
- DNA Mutational Analysis
- Female
- Frameshift Mutation
- Hearing Loss, Sensorineural -- genetics
- Heterozygote
- Homozygote
- Humans
- Insulin Resistance -- genetics
- Liver Failure -- genetics
- Male
- Mutation
- Obesity -- genetics
- Proteins -- genetics
- Renal Insufficiency -- genetics
- Retinitis Pigmentosa -- genetics
- Saudi Arabia
- Syndrome
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Publication Type: Case Reports; Journal Article
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