title: Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis.
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, 100034, PR China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, PR China.
authors.forename: C
authors.initials: C
authors.lastname: Feng
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, 100034, PR China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, PR China.|Peking-Tsinghua Center for Life Sciences, Beijing, PR China.|Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, PR China.
authors.forename: H
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, 100034, PR China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, PR China.
authors.forename: M
authors.initials: M
authors.lastname: Lee
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, 100034, PR China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, PR China.
authors.forename: J
authors.initials: J
authors.lastname: Zhao
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, 100034, PR China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, PR China.
authors.forename: Z
authors.initials: Z
authors.lastname: Lin
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, 100034, PR China.|Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, PR China.|Peking-Tsinghua Center for Life Sciences, Beijing, PR China.
authors.forename: Y
authors.initials: Y
authors.lastname: Yang
mesh_terms: D000328:Adult; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D012867:Skin / Q000473:pathology*
chemical_list: D004247:DNA; D003577:Cytochrome P-450 Enzyme System; C559989:CYP4F22 protein, human