Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. [electronic resource]
Producer: 20080415Description: 4232-6 p. digitalISSN:- 1091-6490
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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