Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients

Human Molecular Genetics

Volumn 19, Issue 11, 2010, Pages 2239-2250

  Ali, Bassam R ^a   Xu, Huifang ^b   Akawi, Nadia A ^a   John, Anne ^a   Karuvantevida, Noushad S ^a   Langer, Ruth ^a   Al Gazali, Lihadh ^a   Leitinger, Birgit ^b  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN RECEPTOR; DISCOIDIN DOMAIN RECEPTOR 2; GLUTAMIC ACID; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG; DISCOIDIN RECEPTOR; LECTIN RECEPTOR; PRIMER DNA; PROTEIN BINDING;

ADOLESCENT; ARTICLE; BINDING SITE; BONE DYSPLASIA; CASE REPORT; CHILD; ENDOPLASMIC RETICULUM; HUMAN; HUMAN CELL; LIGAND BINDING; MALE; MISSENSE MUTATION; MUTANT; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; RISK FACTOR; SCHOOL CHILD; SPONDYLO META EPIPHYSEAL DYSPLASIA WITH SHORT LIMB AND ABNORMAL CALCIFICATION; WILD TYPE; CHEMICAL STRUCTURE; CHEMISTRY; CHONDRODYSPLASIA; DNA SEQUENCE; GENETIC TRANSFECTION; GENETICS; HELA CELL LINE; IMMUNOHISTOCHEMISTRY; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PHYSIOLOGY; RADIOGRAPHY; SIGNAL TRANSDUCTION; UNITED ARAB EMIRATES;

BASE SEQUENCE; CHILD; DNA PRIMERS; ENDOPLASMIC RETICULUM; HELA CELLS; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PROTEIN BINDING; PROTEIN TRANSPORT; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTORS, COLLAGEN; RECEPTORS, MITOGEN; SEQUENCE ANALYSIS, DNA; SIGNAL TRANSDUCTION; TRANSFECTION; UNITED ARAB EMIRATES;

EID: 77953514278     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq103     Document Type: Article

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