TY  - GEN
AU  - Couto,Ana R
AU  - Bruges-Armas,Jacome
AU  - Peach,Chris A
AU  - Chapman,Kay
AU  - Brown,Matthew A
AU  - Wordsworth,B Paul
AU  - Zhang,Yun
TI  - A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis
SN  - 0171-967X
PY  - 2007///1101
KW  - Adult
KW  - Azores
KW  - Base Sequence
KW  - genetics
KW  - Bone and Bones
KW  - diagnostic imaging
KW  - Codon, Nonsense
KW  - DNA
KW  - blood
KW  - DNA Mutational Analysis
KW  - DNA-Binding Proteins
KW  - Exons
KW  - Female
KW  - Genetic Markers
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - Genotype
KW  - Heterozygote
KW  - Humans
KW  - Ireland
KW  - Male
KW  - Melorheostosis
KW  - Membrane Proteins
KW  - Mutation
KW  - Nuclear Proteins
KW  - Osteopoikilosis
KW  - Pedigree
KW  - Radiography
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00223-007-9043-z
ER  -