X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.

Human mutation

Volumn 24, Issue 1, 2004, Pages 103-

  Fiedler, Jörg ^a   Le Merrer, Martine ^a   Mortier, Geert ^a   Heuertz, Solange ^a   Faivre, Laurence ^a   Brenner, Rolf E ^a  

^a UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHONDRODYSPLASIA; EUROPE; EXON; FEMALE; GENETIC LINKAGE; GENETICS; HETEROZYGOTE DETECTION; HUMAN; INTRON; MALE; MUTATION; PEDIGREE; RECURRENT DISEASE; X CHROMOSOME;

CHROMOSOMES, HUMAN, X; EUROPE; EXONS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; INTRONS; LINKAGE (GENETICS); MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; RECURRENCE;

EID: 7244234298     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9254     Document Type: Article

References (0)