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Volumn 7, Issue 7, 2012, Pages

Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC RISK; HEREDITARY RETINAL DEGENERATION; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; SEQUENCE ANALYSIS;

EID: 84864609645     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0041902     Document Type: Article
Times cited : (44)

References (17)
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    • Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
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  • 7
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    • CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
    • Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, et al. ((2007)) CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet 81:: 104--113.
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    • A map of human genome variation from population-scale sequencing
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    • Altshuler, D.1    Durbin, R.2    Abecasis, G.3    Bentley, D.4    Chakravarti, A.5
  • 10
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    • The complete genome of an individual by massively parallel DNA sequencing
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    • Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
    • Rivolta C, Sharon D, DeAngelis MM, Dryja TP, ((2002)) Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet 11:: 1219--1227.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.