Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

Birkenhäger, R

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. [electronic resource] - Nature genetics Nov 2001 - 310-4 p. digital

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

1061-4036

10.1038/ng752 doi


Animals
Bartter Syndrome--complications
Chloride Channels
Chromosomes, Human, Pair 1--genetics
Cloning, Molecular
DNA Mutational Analysis
Exons--genetics
Female
Gene Expression Profiling
Haplotypes--genetics
Hearing Loss, Sensorineural--complications
Humans
In Situ Hybridization
Kidney--metabolism
Male
Membrane Proteins--genetics
Mice
Molecular Sequence Data
Mutation--genetics
Physical Chromosome Mapping
Polymorphism, Single-Stranded Conformational
Prenatal Diagnosis
RNA, Messenger--genetics
Renal Insufficiency--complications