A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children.

Fahiminiya, Somayyeh; Al-Jallad, Hadil; Majewski, Jacek; Palomo, Telma; Moffatt, Pierre; Roschger, Paul; Klaushofer, Klaus; Glorieux, Francis H; Rauch, Frank

Fahiminiya, Somayyeh; Al-Jallad, Hadil; Majewski, Jacek; Palomo, Telma; Moffatt, Pierre; Roschger, Paul; Klaushofer, Klaus; Glorieux, Francis H; Rauch, Frank.

Afiliação

Fahiminiya S; Department of Human Genetics, McGill University, Montréal, QC, Canada H3A 1B1.
Al-Jallad H; Genetics Unit, Shriners Hospital for Children, Montréal, QC, Canada H3G 1A6 and.
Majewski J; Department of Human Genetics, McGill University, Montréal, QC, Canada H3A 1B1.
Palomo T; Genetics Unit, Shriners Hospital for Children, Montréal, QC, Canada H3G 1A6 and.
Moffatt P; Department of Human Genetics, McGill University, Montréal, QC, Canada H3A 1B1 Genetics Unit, Shriners Hospital for Children, Montréal, QC, Canada H3G 1A6 and.
Roschger P; 1st Medical Department, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Center Meidling., Hanusch Hospital, Vienna 1140, Austria.
Klaushofer K; 1st Medical Department, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Center Meidling., Hanusch Hospital, Vienna 1140, Austria.
Glorieux FH; Department of Human Genetics, McGill University, Montréal, QC, Canada H3A 1B1 Genetics Unit, Shriners Hospital for Children, Montréal, QC, Canada H3G 1A6 and.
Rauch F; Department of Human Genetics, McGill University, Montréal, QC, Canada H3A 1B1 Genetics Unit, Shriners Hospital for Children, Montréal, QC, Canada H3G 1A6 and frauch@shriners.mcgill.ca.

Hum Mol Genet ; 24(2): 516-24, 2015 Jan 15.

Article em En | MEDLINE | ID: mdl-25214535

Assuntos

Doenças Ósseas/genética; Proteína Morfogenética Óssea 1/genética; Fraturas Ósseas/genética; Regiões 3' não Traduzidas; Doenças Ósseas/metabolismo; Proteína Morfogenética Óssea 1/deficiência; Criança; Pré-Escolar; Colágeno Tipo I/metabolismo; Éxons; Feminino; Fraturas Ósseas/metabolismo; Humanos; Lactente; Masculino; Poliadenilação

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Ósseas / Fraturas Ósseas / Proteína Morfogenética Óssea 1 Tipo de estudo: Etiology_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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