2015 Year Book of Pediatrics. Ed. Cabana MD. (Elsevier; Philadelphia, PA)
Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer.
Desensitization of mouse nicotinic acetylcholine receptor channels. A two-gate mechanism.
A distinct contribution of the delta subunit to acetylcholine receptor channel activation revealed by mutations of the M2 segment.
New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia.
Disorders of DNA replication and repair.
Sequence variation in the Fanconi anemia gene FAA.
Stoichiometry of recombinant N-methyl-D-aspartate receptor channels inferred from single-channel current patterns.
Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.
Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation.
The genomic organization of the Fanconi anemia group A (FAA) gene.
