Ozcelik, Tayfun

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. [electronic resource] - Proceedings of the National Academy of Sciences of the United States of America Mar 2008 - 4232-6 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1091-6490

10.1073/pnas.0710010105 doi


Adult
Aged
Arm
Base Sequence
Cerebellar Diseases--congenital
Chromosomes, Human, Pair 17--genetics
Chromosomes, Human, Pair 9--genetics
Female
Gait
Heterozygote
Humans
Infant
Leg
Locomotion--genetics
Magnetic Resonance Imaging
Male
Middle Aged
Mutation--genetics
Pedigree
Phenotype
Receptors, LDL--genetics
Reelin Protein
Syndrome