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Volumn 17, Issue , 2011, Pages 2527-2532

VSX2 mutations in autosomal recessive microphthalmia

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANOPHTHALMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONSANGUINITY; DNA BINDING; FEMALE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE REPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MICROPHTHALMIA; MISSENSE MUTATION; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PAKISTAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN MOTIF; SCHOOL CHILD; VISUAL SYSTEM HOMEOBOX 2 GENE;

EID: 83055174002     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (27)

References (24)
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  • 4
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    • (1997) J Comp Neurol , vol.388 , pp. 495-505
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  • 5
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    • Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1
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  • 6
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    • CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds
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    • Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS. CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds. Hum Genet 2004; 115:302-9. [PMID: 15257456]
    • (2004) Hum Genet , vol.115 , pp. 302-309
    • Bar-Yosef, U.1    Abuelaish, I.2    Harel, T.3    Hendler, N.4    Ofir, R.5    Birk, O.S.6
  • 7
    • 34547862116 scopus 로고    scopus 로고
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    • Faiyaz-Ul-Haque, M.1    Zaidi, S.H.2    Al-Mureikhi, M.S.3    Peltekova, I.4    Tsui, L.C.5    Teebi, A.S.6
  • 9
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    • Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy
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    • (2010) Hum Genet , vol.128 , pp. 51-60
    • Iseri, S.U.1    Wyatt, A.W.2    Nurnberg, G.3    Kluck, C.4    Nurnberg, P.5    Holder, G.E.6    Blair, E.7    Salt, A.8    Ragge, N.K.9
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    • (2010) Mol Vis , vol.16 , pp. 549-555
    • Anjum, I.1    Eiberg, H.2    Baig, S.M.3    Tommerup, N.4    Hansen, L.5
  • 23
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    • White, T.1    Lu, T.2    Metlapally, R.3    Katowitz, J.4    Kherani, F.5    Wang, T.Y.6    Tran-Viet, K.N.7    Young, T.L.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.