In search of triallelism in Bardet-Biedl syndrome

Bardet-Biedl syndrome (BBS) is a model disease for ciliopathy in humans. The remarkable genetic heterogeneity that characterizes this disease is consistent with accumulating data on the interaction between the proteins encoded by the 14 BBS genes identified to date. Previous reports suggested that s...

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Veröffentlicht in:	European journal of human genetics : EJHG 2012-04, Vol.20 (4), p.420-427
Hauptverfasser:	ABU-SAFIEH, Leen, AL-ANAZI, Shamsa, AL-SALEM, Ahmad, ALRASHED, May, FAQEIH, Eissa, SOFTAH, Ameen, AL-HASHEM, Amal, WALI, Sami, RAHBEENI, Zuhair, ALSAYED, Moeen, KHAN, Arif O, AL-GAZALI, Lihadh, AL-ABDI, Lama, TASCHNER, Peter Em, AL-HAZZAA, Selwa, ALKURAYA, Fowzan S, HASHEM, Mais, ALKURAYA, Hisham, ALAMR, Mushari, SIRELKHATIM, Mugtaba O, AL-HASSNAN, Zuhair, ALKURAYA, Basim, MOHAMED, Jawahir Y
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Bardet-Biedl syndrome Bardet-Biedl Syndrome - genetics BBS gene Biological and medical sciences Cell Cycle Proteins - genetics Cohort Studies Disease Family Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genes Genes, Modifier Genetics Genetics of eukaryotes. Biological and molecular evolution Genotypes Heredity Hospitals Humans Male Medical genetics Medical sciences Metabolic diseases Molecular and cellular biology Mutation Obesity Pediatrics Phenotypes Polygenic inheritance Research centers Retinitis Retinitis pigmentosa
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