A novel point mutation in the gene encoding capillary morphogenesis protein 2 in a Japanese patient with juvenile hyaline fibromatosis.
Hatamochi
A
A
Department of Dermatology, Dokkyo University School of Medicine, 880 Kitakobayashi, Mibu, Tochigi 321-0293, Japan. hatamo@dokkyomed.jp.ac
Sasaki
T
T
Kawaguchi
T
T
Suzuki
H
H
Yamazaki
S
S
D044466:Asian People; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D018222:Desmoid Tumors / Q000150:complications / Q000235:genetics*; D005767:Gastrointestinal Diseases / Q000150:complications; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018000:Receptors, Peptide; D012141:Respiratory Tract Infections / Q000150:complications; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics*
C447150:ANTXR2 protein, human; D008565:Membrane Proteins; D018000:Receptors, Peptide