Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan family.

Liu, N; Zhuo, Z-H; Wang, H-L; Kong, X-D; Shi, H-R; Wu, Q-H; Jiang, M

Liu, N; Zhuo, Z-H; Wang, H-L; Kong, X-D; Shi, H-R; Wu, Q-H; Jiang, M.

Liu N; a Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
Zhuo ZH; b Department of Pediatrics , the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
Wang HL; b Department of Pediatrics , the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
Kong XD; a Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
Shi HR; c Department of Obstetrics and Gynecology , the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
Wu QH; a Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
Jiang M; a Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.

J Obstet Gynaecol ; 35(5): 490-3, 2015.

Article en En | MEDLINE | ID: mdl-25547367

Asunto(s)

Hipoxantina Fosforribosiltransferasa/genética; Síndrome de Lesch-Nyhan/genética; Pueblo Asiatico; Análisis Mutacional de ADN; Humanos; Lactante; Masculino; Diagnóstico Prenatal

Palabras clave

Gene sequencing; HPRT1 gene; LeschNyhan syndrome; prenatal diagnosis

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Hipoxantina Fosforribosiltransferasa / Síndrome de Lesch-Nyhan Tipo de estudio: Diagnostic_studies Límite: Humans / Infant / Male Idioma: En Año: 2015 Tipo del documento: Article

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