Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred.
Chen
X-L
XL
Xu
C-M
CM
Cai
S-R
SR
Chen
C-Y
CY
Zhang
X-N
XN
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D053534:Keratin-9 / Q000235:genetics*; D053546:Keratoderma, Palmoplantar, Epidermolytic / Q000175:diagnosis* / Q000235:genetics*; D008715:Methionine / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation / Q000502:physiology; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013912:Threonine / Q000235:genetics
C507440:KRT9 protein, human; D053534:Keratin-9; D013912:Threonine; D008715:Methionine