title: A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.
authors.affiliation: Stomatology Clinic, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710061, People's Republic of China. zhangrui.paper@gmail.com.
authors.forename: Daxu
authors.initials: D
authors.lastname: Li
authors.forename: Ran
authors.initials: R
authors.lastname: Xu
authors.forename: Fumeng
authors.initials: F
authors.lastname: Huang
authors.forename: Biyuan
authors.initials: B
authors.lastname: Wang
authors.forename: Yu
authors.initials: Y
authors.lastname: Tao
authors.forename: Zijian
authors.initials: Z
authors.lastname: Jiang
authors.forename: Hairui
authors.initials: H
authors.lastname: Li
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Yao
authors.forename: Peng
authors.initials: P
authors.lastname: Xu
authors.forename: Xiaokang
authors.initials: X
authors.lastname: Wu
authors.forename: Le
authors.initials: L
authors.lastname: Ren
authors.forename: Rui
authors.initials: R
authors.lastname: Zhang
authors.forename: John R
authors.initials: JR
authors.lastname: Kelsoe
authors.forename: Jie
authors.initials: J
authors.lastname: Ma
mesh_terms: D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D017434:Protein Structure, Tertiary; D055815:Young Adult
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins
references.citation: Clin Genet. 2000 Dec;58(6):415-30
references.pmid: 11149610
references.citation: Arch Dermatol. 2002 Sep;138(9):1256-8
references.pmid: 12225002
references.citation: Br J Dermatol. 2012 Jun;166(6):1353-6
references.pmid: 22296312
references.citation: Am J Hum Genet. 1998 Aug;63(2):380-9
references.pmid: 9683615
references.citation: J Biol Chem. 2001 Jun 1;276(22):18819-27
references.pmid: 11279189
references.citation: Am J Hum Genet. 2000 Dec;67(6):1555-62
references.pmid: 11047757
references.citation: Gene. 2012 Jan 10;491(2):246-50
references.pmid: 22008666
references.citation: J Exp Med. 1998 Apr 20;187(8):1205-13
references.pmid: 9547332
references.citation: Clin Genet. 2010 Sep;78(3):257-66
references.pmid: 20236127
references.citation: Curr Biol. 2002 Mar 5;12(5):409-13
references.pmid: 11882293
references.citation: Proc Natl Acad Sci U S A. 2006 Jun 13;103(24):9142-7
references.pmid: 16738056
references.citation: Semin Dermatol. 1993 Sep;12(3):241-6
references.pmid: 8217562
references.citation: Eur J Hum Genet. 2001 May;9(5):355-63
references.pmid: 11378824
references.citation: J Hum Genet. 2006;51(5):498-502
references.pmid: 16583127
references.citation: Br J Dermatol. 2008 Mar;158(3):614-7
references.pmid: 18076698
references.citation: Am J Med Genet A. 2009 Sep;149A(9):2062-7
references.pmid: 19681147
references.citation: FASEB J. 1995 Dec;9(15):1537-46
references.pmid: 8529832
references.citation: PLoS One. 2013 Nov 27;8(11):e80393
references.pmid: 24312213
references.citation: Genomics. 2012 Apr;99(4):220-6
references.pmid: 22310900