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Journal article

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

N Braverman, L Chen, P Lin, C Obie, G Steel, P Douglas, PK Chakraborty, JTR Clarke, A Boneh, A Moser, H Moser, D Valle

Human Mutation | WILEY-LISS | Published : 2002

DOI: 10.1002/humu.10124

University of Melbourne Researchers

Avihu Boneh's Profile Picture
Avihu Boneh Author Paediatrics Royal Children's Hospital

Grants

Awarded by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT


Awarded by NICHD NIH HHS


Citation metrics

84Web of Science
91Scopus
100Dimensions

Keywords

Pts2 Receptor
Founder Effect
Humans
Child
Rcdp1
Identification
Mutation Analysis
Pex7
Fatty-Acids
Gene
Targeting Signal
Genetics & Heredity
Dna Mutational Analysis
Life Sciences & Biomedicine
Peroxisomal Targeting Signal 2 Receptor
Molecular Sequence Data
Amino Acid Sequence
Middle Aged
Receptors, Cytoplasmic and Nuclear
Chondrodysplasia Punctata, Rhizomelic
Mutation
Male
Phenotype
Wd-Repeat
Peroxisomal Disorders
Genotype
Refsum-Disease
Amino Acid Substitution
G-Protein
Peroxisome Biogenesis Disorder
Phytanic Acid
Child, Preschool
Adolescent
Protein Structure, Quaternary
Science & Technology

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