Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.

Umair, Muhammad; Hassan, Annum; Jan, Abid; Ahmad, Farooq; Imran, Muhammad; Samman, Muhammad I; Basit, Sulman; Ahmad, Wasim

Umair, Muhammad; Hassan, Annum; Jan, Abid; Ahmad, Farooq; Imran, Muhammad; Samman, Muhammad I; Basit, Sulman; Ahmad, Wasim.

Afiliação

Umair M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Hassan A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Jan A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Ahmad F; Kohat University of Science and Technology (KUST), Khyber Pakhtunkhwa Province of Pakistan, Pakistan.
Imran M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Samman MI; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Basit S; Center for Genetics and Inherited Diseases, Taibah University Al Madinah Al Munawarah, Munawarah, Saudi Arabia.
Ahmad W; Center for Genetics and Inherited Diseases, Taibah University Al Madinah Al Munawarah, Munawarah, Saudi Arabia.

J Hum Genet ; 61(3): 207-13, 2016 Mar.

Article em En | MEDLINE | ID: mdl-26538303

Assuntos

Consanguinidade; Homozigoto; Osteogênese Imperfeita/genética; Proteínas de Ligação a Tacrolimo/genética; Feminino; Humanos; Masculino; Mutação; Linhagem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Consanguinidade / Proteínas de Ligação a Tacrolimo / Homozigoto Limite: Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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