A missense mutation in the SEDL gene results in      delayed onset of X linked spondyloepiphyseal      dysplasia in a large pedigree.
Grunebaum
E
E
Arpaia
E
E
MacKenzie
J J
JJ
Fitzpatrick
J
J
Ray
P N
PN
Roifman
C M
CM
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000595:Amino Acid Sequence; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics*; D002648:Child; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D017433:Protein Structure, Secondary; D014157:Transcription Factors; D014960:X Chromosome
D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors