Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype

Matrix Biology

Volumn 32, Issue 7-8, 2013, Pages 387-392

  Grosch, Melanie ^a   Grüner, Barbara ^a   Spranger, Stephanie ^b   Stütz, Adrian M ^c   Rausch, Tobias ^c   Korbel, Jan O ^c   Seelow, Dominik ^d   Nürnberg, Peter ^e   Sticht, Heinrich ^f   Lausch, Ekkehart ^g   Zabel, Bernhard ^g   Winterpacht, Andreas ^a   Tagariello, Andreas ^a  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b Praxis fuer Humangenetik   (Germany)

^c EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^g UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Centrosome; Ninein; SEMD; Spondyloepimetaphyseal dysplasia; Whole exome sequencing

Indexed keywords

KIFF22 PROTEIN; KINESIN; MEMBRANE PROTEIN; NINEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DEVELOPMENT; BONE DYSPLASIA; CASE REPORT; CHROMOSOME; CONSANGUINEOUS MARRIAGE; DATA BASE; DWARFISM; EXOME; GENE; GENE MAPPING; GENE SEQUENCE; GENOME; HOMOZYGOSITY; HUMAN; JOINT DISLOCATION; MIDFACE HYPOPLASIA; MISSENSE MUTATION; MOVEMENT (PHYSIOLOGY); NIN GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FAMILY; SCOLIOSIS; SHORT STATURE; SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY LEPTODACTYLIC TYPE 2; VALGUS KNEE;

CENTROSOME; NINEIN; SEMD; SPONDYLOEPIMETAPHYSEAL DYSPLASIA; WHOLE-EXOME SEQUENCING;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME MAPPING; CYTOSKELETAL PROTEINS; DNA POLYMERASE II; GENE COMPONENTS; HUMANS; JOINT INSTABILITY; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR PROTEINS; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ISOFORMS; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 84889083059     PISSN: 0945053X     EISSN: 15691802     Source Type: Journal    
DOI: 10.1016/j.matbio.2013.05.001     Document Type: Article

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