Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism.

Zhang, Ying-Zi; Bai, Da-Yong; Qi, Zhan; Zhao, Su-Zhou; Yang, Xiu-Min; Li, Wei; Wei, Ai-Hua

Zhang, Ying-Zi; Bai, Da-Yong; Qi, Zhan; Zhao, Su-Zhou; Yang, Xiu-Min; Li, Wei; Wei, Ai-Hua.

Afiliação

Zhang YZ; Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.
Bai DY; Shunyi Women and Children's Hospital of Beijing Children's Hospital, Beijing 101300, China.
Qi Z; Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
Zhao SZ; Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
Yang XM; Fulgent Technologies Incorporated, Shanghai 201404, China.
Li W; Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.
Wei AH; Shunyi Women and Children's Hospital of Beijing Children's Hospital, Beijing 101300, China.

Chin Med J (Engl) ; 132(16): 2011-2012, 2019 Aug 20.

Article em En | MEDLINE | ID: mdl-31356463

Assuntos

Albinismo Oculocutâneo/diagnóstico; Albinismo Oculocutâneo/genética; Testes Genéticos/métodos; Adolescente; Adulto; Criança; Pré-Escolar; Feminino; Humanos; Masculino; Reação em Cadeia da Polimerase Multiplex; Adulto Jovem

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Albinismo Oculocutâneo Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google