TY  - GEN
AU  - Zwaenepoel,I
AU  - Verpy,E
AU  - Blanchard,S
AU  - Meins,M
AU  - Apfelstedt-Sylla,E
AU  - Gal,A
AU  - Petit,C
TI  - Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis
SN  - 1098-1004
PY  - 2001///0222
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adaptor Proteins, Signal Transducing
KW  - Alternative Splicing
KW  - Amino Acid Substitution
KW  - Carrier Proteins
KW  - Cell Cycle Proteins
KW  - Child
KW  - Codon, Nonsense
KW  - Cytoskeletal Proteins
KW  - DNA Mutational Analysis
KW  - Deafness
KW  - congenital
KW  - Female
KW  - Genetic Carrier Screening
KW  - Haplotypes
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Mutation, Missense
KW  - Polymorphism, Genetic
KW  - Retinitis Pigmentosa
KW  - Syndrome
N1  - Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O
ER  -