Molecular, biochemical and neuropathological characterization of novel PEX7 deletion variants in patients with classic (severe) rhizomelic chondrodysplasia punctata type 1

Journal article

Peer reviewed

Wedad Fallatah, Graeme Nimmo, Christine Yergeau, Erminia Di Pietro, Fabian Dorninger, Johannes Berger and Nancy Braverman

Molecular genetics and metabolism, Vol.132, p.S286

04/2021

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Title: Molecular, biochemical and neuropathological characterization of novel PEX7 deletion variants in patients with classic (severe) rhizomelic chondrodysplasia punctata type 1
Creators - without role: Wedad Fallatah
Graeme Nimmo
Christine Yergeau
Erminia Di Pietro
Fabian Dorninger
Johannes Berger
Nancy Braverman
Publication Details: Molecular genetics and metabolism, Vol.132, p.S286
Identifiers: 9936764508331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article