TY  - GEN
AU  - Muller,Jean
AU  - Stoetzel,C
AU  - Vincent,M C
AU  - Leitch,C C
AU  - Laurier,V
AU  - Danse,J M
AU  - Hellé,S
AU  - Marion,V
AU  - Bennouna-Greene,V
AU  - Vicaire,S
AU  - Megarbane,A
AU  - Kaplan,J
AU  - Drouin-Garraud,V
AU  - Hamdani,M
AU  - Sigaudy,S
AU  - Francannet,C
AU  - Roume,J
AU  - Bitoun,P
AU  - Goldenberg,A
AU  - Philip,N
AU  - Odent,S
AU  - Green,J
AU  - Cossée,M
AU  - Davis,E E
AU  - Katsanis,N
AU  - Bonneau,D
AU  - Verloes,A
AU  - Poch,O
AU  - Mandel,J L
AU  - Dollfus,H
TI  - Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
SN  - 1432-1203
PY  - 2010///0428
KW  - Adult
KW  - Aged
KW  - Bardet-Biedl Syndrome
KW  - diagnosis
KW  - Chromatography, High Pressure Liquid
KW  - Chromosome Mapping
KW  - Decision Trees
KW  - Female
KW  - Gene Deletion
KW  - Gene Duplication
KW  - Gene Frequency
KW  - Genetic Testing
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Microsatellite Repeats
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Polymorphism, Single Nucleotide
KW  - Polymorphism, Single-Stranded Conformational
KW  - Sequence Analysis, DNA
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00439-010-0804-9
ER  -