Author: Monika Abedin Sigg; Tabea Menchen; Jeffery Johnson; Chanjae Lee; Semil P. Choksi; Galo Garcia; Henriette Busengdal; Gerard Dougherty; Petra Pennekamp; Claudius Werner; Fabian Rentzsch; Nevan Krogan; John B. Wallingford; Heymut Omran; Jeremy F. Reiter
Title: Evolutionary proteomics uncovers ciliary signaling components Document date: 2017_6_22
ID: 9y8r277c_46
Snippet: We identified a consanguineous Azerbijaini kindred with two progeny that display situs inversus 454 totalis ( Figure 7A c.224-1delG, that alters the splice acceptor site of the second ENKUR intron ( Figure 7D , Table 461 S7). Sanger sequencing confirmed that this variant co-segregated with the phenotype and showed 462 a recessive pattern of inheritance in the kindred ( Figure 7E ). Together, these data suggest that 463 homozygous mutations in EN.....
Document: We identified a consanguineous Azerbijaini kindred with two progeny that display situs inversus 454 totalis ( Figure 7A c.224-1delG, that alters the splice acceptor site of the second ENKUR intron ( Figure 7D , Table 461 S7). Sanger sequencing confirmed that this variant co-segregated with the phenotype and showed 462 a recessive pattern of inheritance in the kindred ( Figure 7E ). Together, these data suggest that 463 homozygous mutations in ENKUR are a cause of situs inversus in humans. 464
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