Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome

Gene

Volumn 515, Issue 1, 2013, Pages 84-88

  Khan, Saadullah ^a   Ullah, Imran ^a   Irfanullah, ^a   Touseef, Muhammad ^b   Basit, Sulman ^a   Khan, Muhammad Nasim ^b   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

^b UNIVERSITY OF AZAD JAMMU AND KASHMIR   (Pakistan)

Author keywords

Bardet Biedl syndrome; Genes ARL6 and BBS10; Missense and nonsense mutations

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BARDET BIEDL SYNDROME; CHILD; CHROMOSOME 12Q; CHROMOSOME 3Q; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; FAMILY; FEMALE; GENE MUTATION; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADOLESCENT; ADP-RIBOSYLATION FACTORS; ADULT; BARDET-BIEDL SYNDROME; CHILD; CONSANGUINITY; EXONS; FEMALE; GENETIC LINKAGE; GROUP II CHAPERONINS; HAPLOTYPES; HOMOZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84872277642     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.11.023     Document Type: Article

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