XYLT1 mutations in desbuquois dysplasia type 2

American Journal of Human Genetics

Volumn 94, Issue 3, 2014, Pages 405-414

  Bui, Catherine ^a   Huber, Céline ^a   Tuysuz, Beyhan ^b   Alanay, Yasemin ^c   Bole Feysot, Christine ^d   Leroy, Jules G ^e   Mortier, Geert ^f   Nitschke, Patrick ^g   Munnich, Arnold ^a   Cormier Daire, Valérie ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b ISTANBUL UNIVERSITY   (Turkey)

^c ACIBADEM UNIVERSITY   (Turkey)

^d IMAGINE INSTITUTE   (France)

^e GREENWOOD GENETIC CENTER   (United States)

^f ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^g UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; PROTEOGLYCAN; TRANSFERASE; UNCLASSIFIED DRUG; XYLOSYLTRANSFERASE 1; CHONDROITIN ABC LYASE; DECORIN; GLYCOSYLTRANSFERASE; XYLOSYLTRANSFERASE I;

ADOLESCENT; ADULT; ARTICLE; BIOSYNTHESIS; BONE DYSPLASIA; CATALYSIS; CHILD; CLINICAL ARTICLE; DESBUQUOIS DYSPLASIA TYPE 2; EXOME; FEMALE; FIBROBLAST; GENE LOCUS; GENE SEQUENCE; HUMAN; INFANT; LOSS OF FUNCTION MUTATION; MALE; OSSIFICATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; YOUNG ADULT; BONE MALFORMATION; CONSANGUINITY; DESBUQUOIS DYSPLASIA; DNA RECOMBINATION; DONOR SITE; DYSPLASIA; EXON; EXTRACELLULAR MATRIX; GENE IDENTIFICATION; GENE MUTATION; HUMAN CELL; JOINT LAXITY; NUCLEOTIDE SEQUENCE; PROTEOGLYCAN SYNTHESIS; SHORT STATURE;

ADOLESCENT; ADULT; BONE AND BONES; CHILD; CONSANGUINITY; CRANIOFACIAL ABNORMALITIES; DNA, COMPLEMENTARY; DWARFISM; EXOME; FEMALE; FIBROBLASTS; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; JOINT INSTABILITY; MALE; MICROSATELLITE REPEATS; MUTATION; OSSIFICATION, HETEROTOPIC; PENTOSYLTRANSFERASES; POLYDACTYLY; PROTEOGLYCANS; SEQUENCE ANALYSIS, DNA;

EID: 84895923641     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.01.020     Document Type: Article

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