Journal article

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q

C Toomes, HM Bottomley, RM Jackson, KV Towns, S Scott, DA Mackey, JE Craig, L Jiang, ZL Yang, R Trembath, G Woodruff, CY Gregory-Evans, K Gregory-Evans, MJ Parker, GCM Black, LM Downey, K Zhang, CF Inglehearn

American Journal of Human Genetics | UNIV CHICAGO PRESS | Published : 2004

DOI: 10.1086/383202

Grants

Awarded by NCRR NIH HHS

Awarded by NEI NIH HHS

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Keywords

Receptor-Related Protein-5
Dickkopf Proteins
Ligand
Ldl-Receptor Related Proteins
Frizzled Receptors
Models, Molecular
Chromosomes, Human, Pair 11
Wnt Coreceptor
Bone-Density
Genetic-Heterogeneity
Polymorphism, Single-Stranded Conformational
Low Density Lipoprotein Receptor-Related Protein-5
Receptors, Cell Surface
Life Sciences & Biomedicine
Genetics & Heredity
Exons
Humans
Domain
Female
Introns
Base Sequence
Linkage
Retinal Diseases
D11s533
Mutation
Mice
Pedigree
Male
Proteins
Receptors, G-Protein-Coupled
Receptors, Ldl
Molecular Sequence Data
Protein Structure, Tertiary
Amino Acid Sequence
Science & Technology