Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Muller, Jean
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. [electronic resource] - Human genetics Mar 2010 - 583-93 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1432-1203
10.1007/s00439-010-0804-9 doi
Adult
Aged
Bardet-Biedl Syndrome--diagnosis
Chromatography, High Pressure Liquid
Chromosome Mapping
Decision Trees
Female
Gene Deletion
Gene Duplication
Gene Frequency
Genetic Testing
Homozygote
Humans
Male
Microsatellite Repeats
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Single Nucleotide
Polymorphism, Single-Stranded Conformational
Sequence Analysis, DNA
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. [electronic resource] - Human genetics Mar 2010 - 583-93 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1432-1203
10.1007/s00439-010-0804-9 doi
Adult
Aged
Bardet-Biedl Syndrome--diagnosis
Chromatography, High Pressure Liquid
Chromosome Mapping
Decision Trees
Female
Gene Deletion
Gene Duplication
Gene Frequency
Genetic Testing
Homozygote
Humans
Male
Microsatellite Repeats
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Single Nucleotide
Polymorphism, Single-Stranded Conformational
Sequence Analysis, DNA