title: A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma.
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 200092 Shanghai, China. aypyslm@163.com.
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.forename: Xunyi
authors.initials: X
authors.lastname: Dai
authors.forename: Ruhong
authors.initials: R
authors.lastname: Cheng
authors.forename: Lijia
authors.initials: L
authors.lastname: Yang
authors.forename: Zhirong
authors.initials: Z
authors.lastname: Yao
authors.forename: Jiangbo
authors.initials: J
authors.lastname: Liu
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012307:Risk Factors; D017384:Sequence Deletion; D012867:Skin / Q000473:pathology
chemical_list: C579464:AAGAB protein, human; D033942:Adaptor Proteins, Vesicular Transport