Associated Papers
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
Fallatah W et al.
Journal of Inherited Metabolic Disease, 2021
Cerebral Visual Impairment Characterized by Abnormal Visual Orienting Behavior With Preserved Visual Cortical Activation.
Kelly JP et al.
Investigative Ophthalmology & Visual Science, 2021
33984120 (PubMed )
Supplement: iovs-62-6-15_s003.pdf
Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.
Maksemous N et al.
Biomedicines, 2020
The type-2 peroxisomal targeting signal.
Kunze M
Biochimica Et Biophysica Acta. Molecular Cell Research, 2020
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.
Ro M et al.
Journal of Child Neurology, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.
Phadke SR et al.
Journal of Applied Genetics, 2010
Identification of PEX7 as the second gene involved in Refsum disease.
van den Brink DM et al.
American Journal of Human Genetics, 2003
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
Braverman N et al.
Human Mutation, 2002
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
Motley AM et al.
American Journal of Human Genetics, 2002
Select a paper to view details