TY  - GEN
AU  - Kelberman,Daniel
AU  - Islam,Lily
AU  - Lakowski,Jörn
AU  - Bacchelli,Chiara
AU  - Chanudet,Estelle
AU  - Lescai,Francesco
AU  - Patel,Aara
AU  - Stupka,Elia
AU  - Buck,Anja
AU  - Wolf,Stephan
AU  - Beales,Philip L
AU  - Jacques,Thomas S
AU  - Bitner-Glindzicz,Maria
AU  - Liasis,Alki
AU  - Lehmann,Ordan J
AU  - Kohlhase,Jürgen
AU  - Nischal,Ken K
AU  - Sowden,Jane C
TI  - Mutation of SALL2 causes recessive ocular coloboma in humans and mice
SN  - 1460-2083
PY  - 2014///1203
KW  - Adolescent
KW  - Animals
KW  - Child
KW  - Codon, Nonsense
KW  - Coloboma
KW  - genetics
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - DNA-Binding Proteins
KW  - Eye
KW  - embryology
KW  - Eye Proteins
KW  - Female
KW  - Gene Expression
KW  - Genes, Recessive
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - HEK293 Cells
KW  - Homeodomain Proteins
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Mice, Inbred C57BL
KW  - Mice, Knockout
KW  - PAX2 Transcription Factor
KW  - PAX6 Transcription Factor
KW  - Paired Box Transcription Factors
KW  - Pedigree
KW  - Polymorphism, Single Nucleotide
KW  - Repressor Proteins
KW  - Transcription Factors
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddt643
ER  -