TY  - GEN
AU  - López-Bigas,N
AU  - Rabionet,R
AU  - de Cid,R
AU  - Govea,N
AU  - Gasparini,P
AU  - Zelante,L
AU  - Arbonés,M L
AU  - Estivill,X
TI  - Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome
SN  - 1059-7794
PY  - 2000///0124
KW  - Amino Acid Sequence
KW  - Audiometry
KW  - Base Sequence
KW  - Carrier Proteins
KW  - genetics
KW  - Cochlea
KW  - abnormalities
KW  - DNA
KW  - Female
KW  - Genes, Recessive
KW  - Goiter
KW  - Hearing Loss, Sensorineural
KW  - congenital
KW  - Humans
KW  - Male
KW  - Membrane Transport Proteins
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - RNA Splicing
KW  - Sulfate Transporters
KW  - Syndrome
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K
ER  -