TY  - GEN
AU  - Riazuddin,Saima
AU  - Nazli,Sabiha
AU  - Ahmed,Zubair M
AU  - Yang,Yi
AU  - Zulfiqar,Fareeha
AU  - Shaikh,Rehan S
AU  - Zafar,Ahmed U
AU  - Khan,Shaheen N
AU  - Sabar,Farooq
AU  - Javid,Fouzia T
AU  - Wilcox,Edward R
AU  - Tsilou,Ekaterini
AU  - Boger,Erich T
AU  - Sellers,James R
AU  - Belyantseva,Inna A
AU  - Riazuddin,Sheikh
AU  - Friedman,Thomas B
TI  - Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function
SN  - 1098-1004
PY  - 2008///0416
KW  - Adult
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Animals
KW  - Base Composition
KW  - Chromosomes, Human, Pair 11
KW  - genetics
KW  - Consanguinity
KW  - DNA, Complementary
KW  - Deafness
KW  - Dyneins
KW  - chemistry
KW  - Exons
KW  - Female
KW  - Genes, Recessive
KW  - Genetic Linkage
KW  - Green Fluorescent Proteins
KW  - Hair Cells, Auditory, Inner
KW  - metabolism
KW  - Humans
KW  - Kinetics
KW  - Male
KW  - Mice
KW  - Middle Aged
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Myosin VIIa
KW  - Myosins
KW  - Pedigree
KW  - Phenotype
KW  - Protein Conformation
KW  - Recombinant Fusion Proteins
KW  - Sequence Deletion
KW  - Sequence Homology, Amino Acid
KW  - Transfection
KW  - Usher Syndromes
N1  - Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.20677
ER  -