A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.
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Bardet-Biedl SyndromeUpdate on the genetics of bardet-biedl syndromeMutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.A population-based study of autosomal-recessive disease-causing mutations in a founder populationGenetics of human Bardet-Biedl syndrome, an updates.An estimate of the average number of recessive lethal mutations carried by humans.Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite populationCarrier frequency of two BBS2 mutations in the Ashkenazi population.
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P2860
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.
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A founder mutation in BBS2 is ...... cally heterogeneous disorders.
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A founder mutation in BBS2 is ...... cally heterogeneous disorders.
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A founder mutation in BBS2 is ...... cally heterogeneous disorders.
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A founder mutation in BBS2 is ...... cally heterogeneous disorders.
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A founder mutation in BBS2 is ...... cally heterogeneous disorders.
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A founder mutation in BBS2 is ...... cally heterogeneous disorders.
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A founder mutation in BBS2 is ...... ically heterogeneous disorders
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A E Chudley
C Beaulieu
E G Puffenberger
J S Parboosingh
K M Boycott
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P304
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10.1111/J.1399-0004.2010.01481.X
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2010-11-01T00:00:00Z