Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

American Journal of Human Genetics

Volumn 94, Issue 2, 2014, Pages 268-277

  Esteves, Typhaine ^a,b,c,d   Durr, Alexandra ^a,b,c,d   Mundwiller, Emeline ^d   Loureiro, José L ^e   Boutry, Maxime ^a,b,c   Gonzalez, Michael A ^f   Gauthier, Julie ^g   El Hachimi, Khalid H ^a,b,c,d   Depienne, Christel ^a,b,c,d   Muriel, Marie Paule ^a,b,c   Acosta Lebrigio, Rafael F ^f   Gaussen, Marion ^a,b,c,d   Noreau, Anne ^g   Speziani, Fiorella ^f   Dionne Laporte, Alexandre ^g   Deleuze, Jean François ^h   Dion, Patrick ^g   Coutinho, Paula ^e   Rouleau, Guy A ^g   Zuchner, Stephan ^f   Brice, Alexis ^a,b,c,d   Stevanin, Giovanni ^a,b,c,d   Darios, Frédéric ^a,b,c   more..

^a SORBONNE UNIVERSITÉ   (France)

^b INSERM   (France)

^c CNRS   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e UNIVERSITY OF PORTO   (Portugal)

^f UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^g MCGILL UNIVERSITY   (Canada)

^h CENTRE NATIONAL DE GÉNOTYPAGE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; ANIMALS; CERCOPITHECUS AETHIOPS; CHROMOSOME MAPPING; COS CELLS; EXOME; FEMALE; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84893774987     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.12.005     Document Type: Article

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