An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda.
Takahashi
T
T
Takahashi
I
I
Tsuchida
S
S
Oyama
K
K
Komatsu
M
M
Saito
H
H
Takada
G
G
D000293:Adolescent; D000818:Animals; D019556:COS Cells; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D026901:Membrane Transport Proteins; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D014157:Transcription Factors; D014960:X Chromosome
D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors