A Novel RAB33B Mutation in Smith-McCort Dysplasia

Human Mutation

Volumn 34, Issue 2, 2013, Pages 283-286

  Dupuis, Nina ^a,b   Lebon, Sophie ^a,b   Kumar, Manoj ^a,b   Drunat, Séverine ^c   Graul Neumann, Luitgard M ^d   Gressens, Pierre ^a,b,c   El Ghouzzi, Vincent ^a,b  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Dyggve Melchior Clausen syndrome; DYMECLIN; Golgi apparatus; RAB33B; Smith McCort dysplasia

Indexed keywords

ASPARAGINE; COMPLEMENTARY DNA; GENOMIC DNA; LYSINE; PROTEIN; RAB33B PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CASE REPORT; CODON; CONTROLLED STUDY; EXON; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNOFLUORESCENCE; MALE; MOLECULAR PATHOLOGY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SMITH MCCORT DYSPLASIA; TRANSLATION INITIATION; WESTERN BLOTTING;

DWARFISM; EXOME; GENETIC DISEASES, X-LINKED; GENETIC HETEROGENEITY; GOLGI APPARATUS; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PROTEINS; RAB GTP-BINDING PROTEINS; SEQUENCE ANALYSIS; YOUNG ADULT;

EID: 84873088351     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22235     Document Type: Article

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