The Role of p.Ser1105Ser (in <i>NPHS1</i> Gene) and p.Arg548Leu (in <i>PLCE1</i> Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic?

Thi Kim Lien, Nguyen; Van Dem, Pham; Thu Huong, Nguyen; Minh Dien, Tran; Thi Thu Thuy, Ta; Van Tung, Nguyen; Huy Hoang, Nguyen; Thi Quynh Huong, Nguyen

The Role of p.Ser1105Ser (in NPHS1 Gene) and p.Arg548Leu (in PLCE1 Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic?

Thi Kim Lien, Nguyen; Van Dem, Pham; Thu Huong, Nguyen; Minh Dien, Tran; Thi Thu Thuy, Ta; Van Tung, Nguyen; Huy Hoang, Nguyen; Thi Quynh Huong, Nguyen.

Afiliação

Thi Kim Lien N; Institute of Genome Research, Vietnam Academy of Science and Technology, 18, Hoang Quoc Viet str., Caugiay, Hanoi 100000, Vietnam. ntkimlienibt@gmail.com.
Van Dem P; University of Science, Vietnam National University, 334, Nguyen Trai str., Thanhxuan, Hanoi 100000, Vietnam. phamdemhd@gmail.com.
Thu Huong N; Bachmai Hospital, Ministry of Health, Hanoi 100000, Vietnam. phamdemhd@gmail.com.
Minh Dien T; Vietnam National Children's Hospital, Ministry of Health, 18/879 La Thanh str., Dongda, Hanoi 100000, Vietnam. Nguyenthuhuongnhp@gmail.com.
Thi Thu Thuy T; Vietnam National Children's Hospital, Ministry of Health, 18/879 La Thanh str., Dongda, Hanoi 100000, Vietnam. dientm@nhp.org.vn.
Van Tung N; Hanoi Open University, Ministry of Education and Training, Hanoi 100000, Vietnam. thuthuycnsh@gmail.com.
Huy Hoang N; Institute of Genome Research, Vietnam Academy of Science and Technology, 18, Hoang Quoc Viet str., Caugiay, Hanoi 100000, Vietnam. tungnv53@gmail.com.
Thi Quynh Huong N; Faculty of Biotechnology, Graduate University of Science and Technology, Hanoi 100000, Vietnam. tungnv53@gmail.com.

Medicina (Kaunas) ; 55(4)2019 Apr 12.

Article em En | MEDLINE | ID: mdl-31013750

Assuntos

Proteínas de Membrana/genética; Síndrome Nefrótica/genética; Fosfoinositídeo Fosfolipase C/genética; Éxons; Feminino; Genótipo; Humanos; Lactente; Recém-Nascido; Peptídeos e Proteínas de Sinalização Intracelular/genética; Masculino; Mutação; Linhagem; Fenótipo; Análise de Sequência de DNA; Vietnã; Proteínas WT1/genética

Palavras-chave

NPHS1; NPHS2; PLCE1; Vietnamese patients; WT1 mutation; congential nephrotic syndrome (CNS)

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfoinositídeo Fosfolipase C / Proteínas de Membrana / Síndrome Nefrótica Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male / Newborn País como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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