Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: The power of homozygosity mapping

Journal of Medical Genetics

Volumn 47, Issue 4, 2010, Pages 236-241

  Abu Safieh, L ^a   Aldahmesh, M A ^a   Shamseldin, H ^a   Hashem, M ^a   Shaheen, R ^a   Alkuraya, H ^b   Al Hazzaa, S A F ^a   Al Rajhi, A ^b   Alkuraya, Fowzan S ^a,c,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; FAMILY; FEMALE; GENE MAPPING; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SCHOOL CHILD;

ADOLESCENT; ADULT; ANIMALS; BARDET-BIEDL SYNDROME; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PROTEINS; SEQUENCE ALIGNMENT;

EID: 77951601905     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.070755     Document Type: Article

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