Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.

Benayoun, Liat; Spiegel, Ronen; Auslender, Noa; Abbasi, Anan H; Rizel, Leah; Hujeirat, Yasir; Salama, Ihsan; Garzozi, Hanna J; Allon-Shalev, Stavit; Ben-Yosef, Tamar

Benayoun, Liat; Spiegel, Ronen; Auslender, Noa; Abbasi, Anan H; Rizel, Leah; Hujeirat, Yasir; Salama, Ihsan; Garzozi, Hanna J; Allon-Shalev, Stavit; Ben-Yosef, Tamar.

Affiliation

Benayoun L; Faculty of Medicine, Technion, Haifa, Israel.

Am J Med Genet A ; 149A(4): 650-6, 2009 Feb 15.

Article in En | MEDLINE | ID: mdl-19140180

Subject(s)

Retinal Degeneration/genetics; Adolescent; Adult; Age of Onset; Alcohol Oxidoreductases/genetics; Alleles; Amino Acid Sequence; Arabs/genetics; Base Sequence; Child; Child, Preschool; Chromosome Mapping; Consanguinity; DNA Mutational Analysis; DNA Primers/genetics; Eye Proteins/genetics; Female; Genes, Recessive; Haplotypes; Heterozygote; Homozygote; Humans; Infant; Israel; Male; Membrane Proteins/genetics; Middle Aged; Molecular Sequence Data; Nerve Tissue Proteins/genetics; Pedigree; Phenotype; Sequence Homology, Amino Acid

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Full text: 1 Database: MEDLINE Main subject: Retinal Degeneration Type of study: Prognostic_studies / Risk_factors_studies Country/Region as subject: Asia Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2009 Type: Article Affiliation country: Israel

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