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Your search keyword '"Lu FY"' showing total 2 results
Start Over Author "Lu FY" Journal international journal of dermatology
2 results on '"Lu FY"'

1. Incomplete Kawasaki disease induced by measles in a 6-month-old male infant.

Author

Hu P, Guan Y, Fan XC, Lu FY, and Song LM

Subjects
Drug Therapy, Combination, Follow-Up Studies, Humans, Infant, Male, Measles diagnosis, Mucocutaneous Lymph Node Syndrome diagnosis, Risk Assessment, Severity of Illness Index, Treatment Outcome, Aspirin therapeutic use, Immunoglobulins, Intravenous therapeutic use, Measles complications, Mucocutaneous Lymph Node Syndrome drug therapy, Mucocutaneous Lymph Node Syndrome etiology
Published
2016
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2. Identification of mutation c.632G>A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease.

Author

Lu FY, Xu L, Yin XG, Wan P, Zhang XD, Chen WW, Ding SP, and Yao YG

Subjects
Adolescent, Adult, Aged, Asian People, Child, Child, Preschool, Female, Genotype, Heterozygote, Humans, Male, Middle Aged, Mutation, Pedigree, Phenotype, Sequence Analysis, DNA, Darier Disease genetics, Darier Disease pathology, Sarcoplasmic Reticulum Calcium-Transporting ATPases genetics
Abstract

Darier's disease (DD, MIM 124200) is an autosomal dominant inherited skin disease. Mutations in the ATP2A2 gene, which encoded the sarcoplasmic/endoplasmic reticulum Ca(2+) -ATPase isoform 2 (SERCA2), are responsible for this skin disorder. Here we report the clinical, genetic, and molecular characterization of a large Chinese family with DD. We identified mutation c.632G>A (p.G211D) in the ATP2A2 gene in this family. Genotype-phenotype correlation in available family members provided helpful genetic counseling information for mutation carriers., (© 2011 The International Society of Dermatology.)

Published
2011
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