Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease

PLoS ONE

Volumn 9, Issue 8, 2014, Pages

  Chen, Mingfei ^a,b   Li, Yi ^c   Liu, Hong ^b   Fu, Xi'an ^b   Yu, Yiongxiang ^b   Yu, Gongqi ^b   Wang, Chuan ^b   Bao, Fangfang ^b   Liany, Herty ^c   Wang, Zhenzhen ^b   Shi, Zhongxiang ^b,d   Zhang, Dizhan ^b,d   Zhou, Guizhi ^b   Liu, Jianjun ^c   Zhang, Furen ^b,d  

^a ANHUI MEDICAL UNIVERSITY   (China)

^b Shandong Provincial Institute of Dermatology and Venereology ^*  (China)

^c GENOME INSTITUTE OF SINGAPORE   (Singapore)

^d SHANDONG PROVINCIAL HOSPITAL AFFILIATED TO SHANDONG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; FUCOSYLTRANSFERASE; POLYPEPTIDE FUCOSYLTRANSFERASE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DOWLING DEGOS DISEASE; EXOME; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC PROCEDURES; GENODERMATOSIS; GENOME ANALYSIS; GENOME SIZE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KRT5 GENE; LINKAGE ANALYSIS; MALE; MUTATIONAL ANALYSIS; PATHOGENESIS; POFUT1 GENE; POLYMERASE CHAIN REACTION; SANGER SEQUENCING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; ASIAN CONTINENTAL ANCESTRY GROUP; ERYTHEMATOSQUAMOUS SKIN DISEASE; GENETIC LINKAGE; GENETICS; HYPERPIGMENTATION; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SKIN DISEASE;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; EXOME; FEMALE; FUCOSYLTRANSFERASES; GENETIC LINKAGE; HUMANS; HYPERPIGMENTATION; MALE; MUTATION; PEDIGREE; SEQUENCE DELETION; SKIN DISEASES, GENETIC; SKIN DISEASES, PAPULOSQUAMOUS;

EID: 84925425054     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0104496     Document Type: Article

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