Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects
Page 1 of 1
Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects
Bloch-Zupan A, Jamet X, Etard C, Laugel V, Muller J, Geoffroy V, Strauss J-P, Pelletier V, Marion V, Poch O, Strahle U, Stoetzel C, Hélène Dollfus H. Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects. Am J Hum Genet. 2011 December 9; 89(6): 773–781. doi: 10.1016/j.ajhg.2011.11.002
alexvincent- Posts : 44
Join date : 2012-04-06
Similar topics
» Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
» Mutations in vacuolar H(+)-ATPase subunits lead to biliary developmental defects in zebrafish
» Whole-exome Sequencing Identifies a Variant in TMEM132E Causing Autosomal-Recessive Nonsyndromic Hearing Loss DFNB99
» Enhancer of zeste acts as a major developmental regulator of Ciona intestinalis embryogenesis
» Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria
» Mutations in vacuolar H(+)-ATPase subunits lead to biliary developmental defects in zebrafish
» Whole-exome Sequencing Identifies a Variant in TMEM132E Causing Autosomal-Recessive Nonsyndromic Hearing Loss DFNB99
» Enhancer of zeste acts as a major developmental regulator of Ciona intestinalis embryogenesis
» Genome-Wide Linkage, Exome Sequencing and Functional Analyses Identify ABCB6 as the Pathogenic Gene of Dyschromatosis Universalis Hereditaria
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum
|
|