A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Al Kindi, Adila ^a   Kizhakkedath, Praseetha ^b   Xu, Huifang ^c   John, Anne ^b   Sayegh, Abeer A ^a   Ganesh, Anuradha ^a   Al Awadi, Maha ^a   Al Anbouri, Lamya ^a   Al Gazali, Lihadh ^b   Leitinger, Birgit ^c   Ali, Bassam R ^b  

^a SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

^b UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^c NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

Author keywords

DDR2; ERAD; Optic atrophy; SMED SL; Spondylo meta epiphyseal dysplasia; Trafficking defect

Indexed keywords

AMINO ACID; COLLAGEN; COLLAGEN RECEPTOR; DINUCLEOTIDE; DISCOIDIN; DISCOIDIN DOMAIN RECEPTOR 2; MUTANT PROTEIN; PHOSPHOTRANSFERASE; RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DISORDER; BONE RADIOGRAPHY; CELLULAR DISTRIBUTION; CLINICAL EVALUATION; CONFOCAL MICROSCOPY; CONSANGUINEOUS MARRIAGE; DEGLYCOSYLATION; DNA SEQUENCE; ENDOPLASMIC RETICULUM; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENETIC DISORDER; GLYCOSYLATION; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; LIGAND BINDING; MAMMAL CELL; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PHENOTYPE; PROTEIN DOMAIN; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; SHORT LIMB AND ABNORMAL CALCIFICATION; SIBLING; SPONDYLOMETEPIPHYSEAL DYSPLASIA; VISUAL IMPAIRMENT; WESTERN BLOTTING;

BASE SEQUENCE; BLOTTING, WESTERN; DNA PRIMERS; DWARFISM; HUMANS; IMMUNOHISTOCHEMISTRY; MICROSCOPY, CONFOCAL; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OPTIC ATROPHY; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHOSPHORYLATION; PROTEIN TRANSPORT; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTORS, MITOGEN; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SIBLINGS;

EID: 84899621452     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-42     Document Type: Article

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