Mutations in BCAP31 cause a severe X-Linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus

American Journal of Human Genetics

Volumn 93, Issue 3, 2013, Pages 579-586

  Cacciagli, Pierre ^a,b,c   Sutera Sardo, Julie ^a,b   Borges Correia, Ana ^a,b   Roux, Jean Christophe ^a,b   Dorboz, Imen ^d   Desvignes, Jean Pierre ^a,b   Badens, Catherine ^a,b,c   Delepine, Marc ^e   Lathrop, Mark ^e,f   Cau, Pierre ^a,b,c   Lévy, Nicolas ^a,b,c   Girard, Nadine ^b,c   Sarda, Pierre ^g   Boespflug Tanguy, Odile ^d,h   Villard, Laurent ^a,b  

^a Laboratoire de Biochimie et Biologie moléculaire   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

^c TIMONE HOSPITAL   (France)

^d INSERM   (France)

^e CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^f FONDATION JEAN DAUSSET CEPH   (France)

^g HÔPITAL ARNAUD DE VILLENEUVE   (France)

^h ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BCAP31 GENE; CELL STRUCTURE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DYSTONIA; ENDOPLASMIC RETICULUM; FIBROBLAST; GENE; GENETIC TRANSCRIPTION; GOLGI COMPLEX; HEARING IMPAIRMENT; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; WHITE MATTER; X CHROMOSOME LINKED DISORDER;

CELL SHAPE; CHILD; CHILD, PRESCHOOL; DEAFNESS; DYSTONIA; FEMALE; FIBROBLASTS; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; GOLGI APPARATUS; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; MYELIN SHEATH; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84883773058     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.07.023     Document Type: Article

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