A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens.
Nishizawa
A
A
Department of Dermatology, Hirosaki University School of Medicine, Hirosaki, Japan.
Toyomaki
Y
Y
Nakano
A
A
Takeuchi
S
S
Matsuzaki
Y
Y
Takeda
H
H
Kaneko
T
T
Mitsuhashi
Y
Y
Nakano
H
H
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D053560:Ichthyosis Bullosa of Siemens / Q000235:genetics* / Q000473:pathology; D007564:Japan; D053557:Keratin-2 / Q000235:genetics*; D008297:Male; D010375:Pedigree
D053557:Keratin-2