TY  - GEN
AU  - Jaakkola,E
AU  - Mustonen,A
AU  - Olsen,P
AU  - Miettinen,S
AU  - Savuoja,T
AU  - Raams,A
AU  - Jaspers,N G J
AU  - Shao,H
AU  - Wu,B L
AU  - Ignatius,J
TI  - ERCC6 founder mutation identified in Finnish patients with COFS syndrome
SN  - 1399-0004
PY  - 2011///0222
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Base Sequence
KW  - Cataract
KW  - Child, Preschool
KW  - Cockayne Syndrome
KW  - Consanguinity
KW  - DNA Helicases
KW  - DNA Mutational Analysis
KW  - DNA Repair Enzymes
KW  - Finland
KW  - Humans
KW  - Male
KW  - Microcephaly
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Phenotype
KW  - Poly-ADP-Ribose Binding Proteins
KW  - Syndrome
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1111/j.1399-0004.2010.01424.x
ER  -