Spectrum of HSPG2 (perlecan) mutations in patients with Schwartz-Jampel syndrome

Human Mutation

Volumn 27, Issue 11, 2006, Pages 1082-1091

  Stum, Morgane ^a,b   Davoine, Claire Sophie ^a,b   Vicart, Savine ^a,b,j   Guillot Noël, Léna ^a,b   Topaloglu, Haluk ^c   Carod Artal, Francisco Javier ^d   Kayserili, Hülya ^e   Hentati, Fayçal ^f   Merlini, Luciano ^g   Urtizberea, Jon Andoni ^h   Hammouda, El Hadi ⁱ   Quan, Phuc Canh ^a,b   Fontaine, Bertrand ^a,b,j   Nicole, Sophie ^a,b,j  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c HACETTEPE UNIVERSITY   (Turkey)

^d SARAH NETWORK OF REHABILITATION HOSPITALS   (Brazil)

^e ISTANBUL UNIVERSITY   (Turkey)

^f Institut National de Neurologie Tunisia   (Tunisia)

^g UNIVERSITY OF FERRARA   (Italy)

^h European Neuromuscular Center ENMC   (France)

ⁱ GÉNÉTHON   (France)

^j ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

more..

Author keywords

Chondrodysplasia; HSPG2; Hypomorphic; Myotonia; Perlecan; Schwartz Jampel syndrome; SJS

Indexed keywords

CYSTEINE; MESSENGER RNA; PERLECAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHONDRODYSPLASIA; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; HAPLOTYPE; HSPG2 GENE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MALE; MISSENSE MUTATION; MYOTONIA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; QUALITY CONTROL; RNA ANALYSIS; SCHWARTZ JAMPEL SYNDROME;

EID: 33750906742     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20388     Document Type: Article

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