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Kovacevic, Merdijana
Motor Disorders
Schmukler, Juan
Ions
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
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Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet. 2012 Nov; 131(11):1761-73.
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PubMed
subject areas
Adolescent
Adult
Apoptosis
Blotting, Western
Brefeldin A
Cells, Cultured
Child, Preschool
Cutis Laxa
Enzyme-Linked Immunosorbent Assay
Fibroblasts
Fluorescent Antibody Technique
Glycosylation
Golgi Apparatus
Humans
Infant
Male
Mutation
Protein Synthesis Inhibitors
Protein Transport
Proton-Translocating ATPases
Real-Time Polymerase Chain Reaction
Reverse Transcriptase Polymerase Chain Reaction
RNA, Messenger
Skin
Transforming Growth Factor beta1
Young Adult
authors with profiles
Elizabeth Berry-Kravis