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

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 650-656

  Benayoun, Liat ^a,b   Spiegel, Ronen ^a,b   Auslender, Noa ^a   Abbasi, Anan H ^a,c   Rizel, Leah ^a   Hujeirat, Yasir ^b   Salama, Ihsan ^d   Garzozi, Hanna J ^a,c   Allon Shalev, Stavit ^a,b   Ben Yosef, Tamar ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b HAEMEK MEDICAL CENTER   (Israel)

^c BNAI ZION MEDICAL CENTER   (Israel)

^d CLALIT HEALTH SERVICES   (Israel)

Author keywords

CRB1; Genetic heterogeneity; RDH12; Retinal degeneration; Retinitis pigmentosa

Indexed keywords

ALLELE; ARTICLE; CHILD; CONSANGUINITY; CONTROLLED STUDY; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SCHOOL CHILD;

ADOLESCENT; ADULT; AGE OF ONSET; ALCOHOL OXIDOREDUCTASES; ALLELES; AMINO ACID SEQUENCE; ARABS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EYE PROTEINS; FEMALE; GENES, RECESSIVE; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; ISRAEL; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; RETINAL DEGENERATION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 63749119089     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32634     Document Type: Article

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