But what interests him most is homing in on the mutations affecting the cilia.
Working with the geneticist L. C. Dunn and others, Dr. Waelsch described mutations affecting the spine and skeleton and observed other inherited abnormalities as they appeared.
Fig. 2 Possible consequences of migraine mutations affecting the central glutamate synapse.
It is produced by mutations affecting the Mecp2 gene that codes for a transcription factor.
Consequently, mutations affecting the function of MICOS are responsible for a diverse spectrum of human diseases.
Mutations affecting the CFTR gene cause cystic fibrosis (CF), a multi-organ severe disease.
Mutations affecting the kinase domain of FGFR4 may cause cancer, for example, breast cancer or rhabdomyosarcoma.
The major cause of RTT are mutations affecting the methyl-CpG binding protein 2 (MEcodingodingenene [1].
Here we show, that distinct mutations affecting the essential DNA topoisomerase I (TopA) cause glutamate prototrophy of the ccpA mutant.
This chapter describes some of the behavioral screening assays devised in laboratory to isolate mutations affecting the zebrafish nervous system.
To present the association between mutations affecting the Wnt-signaling receptor protein (FZD4), inherited vitreoretinopathies, and retinopathy of prematurity (ROP).
