scholarly journals Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

2006 ◽  
Vol 14 (11) ◽  
pp. 1195-1203 ◽  
Author(s):  
Virginie Laurier ◽  
Corinne Stoetzel ◽  
Jean Muller ◽  
Christelle Thibault ◽  
Sandra Corbani ◽  
...  
Keyword(s):  
Homozygosity Mapping ◽  
Bardet Biedl Syndrome ◽  
Mutant Genes

scholarly journals Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

2006 ◽  
Vol 103 (16) ◽  
pp. 6287-6292 ◽  
Author(s):  
A. P. Chiang ◽  
J. S. Beck ◽  
H.-J. Yen ◽  
M. K. Tayeh ◽  
T. E. Scheetz ◽  
...  
Keyword(s):  
Ubiquitin Ligase ◽  
E3 Ubiquitin Ligase ◽  
Homozygosity Mapping ◽  
Bardet Biedl Syndrome ◽  
Snp Arrays

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping

2009 ◽  
Vol 47 (4) ◽  
pp. 236-241 ◽  
Author(s):  
L. Abu Safieh ◽  
M. A. Aldahmesh ◽  
H. Shamseldin ◽  
M. Hashem ◽  
R. Shaheen ◽  
...  
Keyword(s):  
Homozygosity Mapping ◽  
Molecular Characterisation ◽  
Bardet Biedl Syndrome

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

1994 ◽  
Vol 3 (8) ◽  
pp. 1331-1335 ◽  
Author(s):  
Val C. Sheffield ◽  
Rivka Carml ◽  
Anne Kwltek-Black ◽  
Tatiana Rokhlina ◽  
Darryl Nishlmura ◽  
...  
Keyword(s):  
Homozygosity Mapping ◽  
Chromosome 3 ◽  
Bardet Biedl Syndrome ◽  
Efficient Approach
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