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Document type:
journal article 
Author(s):
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 
Title:
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 
Abstract:
To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin.Linkage in two families (A and B) was established to on chromosome 4q27, in family C to on chromosome 14q32.1, and in family D to on chromosome 12q21.2. Family E was investigated directly with exome sequence analysis.Sanger sequencing revealed two novel mutations and three previously reported mutations in the genes. These mutations include two deletions (c.580_582delGCA, c.15...    »
 
Journal title abbreviation:
Mol Vis 
Year:
2017 
Journal volume:
23 
Pages contribution:
482-494 
Language:
eng 
TUM Institution:
Institut für Humangenetik