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A novel STS mutation and an Xp22.31 microdeletion in a Chinese family with X-linked ichthyosis.
Huang, Y; Luo, S; Zhao, P; Tan, L; Fu, G; Zhou, A; He, X.
Afiliación
  • Huang Y; Precision Medical Center, Wuhan Children's Hospital, Wuhan Maternal and Child Healthcare Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Luo S; Precision Medical Center, Wuhan Children's Hospital, Wuhan Maternal and Child Healthcare Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Zhao P; Precision Medical Center, Wuhan Children's Hospital, Wuhan Maternal and Child Healthcare Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Tan L; Precision Medical Center, Wuhan Children's Hospital, Wuhan Maternal and Child Healthcare Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Fu G; Dermatology Department, Wuhan Children's Hospital, Wuhan Maternal and Child Healthcare Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Zhou A; Prenatal Diagnosis Center, Wuhan Children's Hospital, Wuhan Maternal and Child Healthcare Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • He X; Precision Medical Center, Wuhan Children's Hospital, Wuhan Maternal and Child Healthcare Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Clin Exp Dermatol ; 46(3): 614-617, 2021 Apr.
Article en En | MEDLINE | ID: mdl-33336383
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ictiosis Ligada al Cromosoma X / Codón sin Sentido / Esteril-Sulfatasa Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Clin Exp Dermatol Año: 2021 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ictiosis Ligada al Cromosoma X / Codón sin Sentido / Esteril-Sulfatasa Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Clin Exp Dermatol Año: 2021 Tipo del documento: Article País de afiliación: China