Riazuddin, Saima

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. [electronic resource] - Human mutation Apr 2008 - 502-11 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.20677 doi


Adult
Alleles
Amino Acid Sequence
Animals
Base Composition
Chromosomes, Human, Pair 11--genetics
Consanguinity
DNA, Complementary--genetics
Deafness--genetics
Dyneins--chemistry
Exons
Female
Genes, Recessive
Genetic Linkage
Green Fluorescent Proteins--genetics
Hair Cells, Auditory, Inner--metabolism
Humans
Kinetics
Male
Mice
Middle Aged
Models, Molecular
Molecular Sequence Data
Mutation
Myosin VIIa
Myosins--chemistry
Pedigree
Phenotype
Protein Conformation
Recombinant Fusion Proteins--genetics
Sequence Deletion
Sequence Homology, Amino Acid
Transfection
Usher Syndromes--genetics