Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families

PURPOSE: To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin. METHODS: Linkage in two families (A and B) was established to BBS7 on chromosome 4q27, in family C to BBS8 on chromosome 14q32.1, and in family D to BBS10 on chromosome 12q...

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Detalles Bibliográficos
Autores principales: Ullah, Asmat, Umair, Muhammad, Yousaf, Maryam, Khan, Sher Alam, Nazim-ud-din, Muhammad, Shah, Khadim, Ahmad, Farooq, Azeem, Zahid, Ali, Ghazanfar, Alhaddad, Bader, Rafique, Afzal, Jan, Abid, Haack, Tobias B., Strom, Tim M., Meitinger, Thomas, Ghous, Tahseen, Ahmad, Wasim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524433/
https://www.ncbi.nlm.nih.gov/pubmed/28761321

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