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Volumn 63, Issue 3, 1998, Pages 909-912

Mutations in the myosin VIAA gene cause a wide phenotypic spectrum, including atypical usher syndrome [5]

Author keywords

[No Author keywords available]

Indexed keywords

DISEASE SEVERITY; GENE LOCUS; GENE MAPPING; GENE MUTATION; HEARING LOSS; HUMAN; LETTER; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; USHER SYNDROME; ADOLESCENT; ADULT; CASE REPORT; CHILD; FEMALE; GENETICS; HEARING IMPAIRMENT; MALE; MUTATION; PEDIGREE; RETINITIS PIGMENTOSA; SYNDROME;

EID: 0032216552     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302026     Document Type: Letter
Times cited : (101)

References (16)
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  • 2
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    • ZY Chen T Hassan PM Kelley BJ Schwender MF Schwartz M Ramakrishanan WJ Kimberling Molecular cloning and domain structure of human myosin VIIa, the gene product defective in Usher syndrome 1B Genomics 36 1996 440 448
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  • 3
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    • Conservation within the myosin motor domain: implications for structure and function
    • MJTV Cope J Whisstock I Rayment K Kendrick-Jones Conservation within the myosin motor domain: implications for structure and function Structure 4 1996 969 987
    • (1996) Structure , vol.4 , pp. 969-987
    • Cope, MJTV1    Whisstock, J2    Rayment, I3    Kendrick-Jones, K4
  • 4
    • 0030846814 scopus 로고    scopus 로고
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    • Hasson, T1
  • 5
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    • Usher syndrome in the city of Birmingham—prevalence and clinical classification
    • CI Hope S Bundey Proops D Fielder AR Usher syndrome in the city of Birmingham—prevalence and clinical classification Br J Ophthalmol 81 1997 46 53
    • (1997) Br J Ophthalmol , vol.81 , pp. 46-53
    • Hope, CI1    Bundey, S2    Proops, D3    Fielder, AR4
  • 7
    • 0030805901 scopus 로고    scopus 로고
    • Identification of a new mutation of the head region of myosin VII gene in Usher syndrome type 1
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    • (1997) Hum Mutat , vol.10 , pp. 168-170
    • Liu, XZ1    Newton, VE2    Steel, KP3    Brown, SDM4
  • 9
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    • (1997) Nat Genet , vol.17 , pp. 268-269
    • Liu, XZ1    Walsh, J2    Tamagawa, Y3    Kitamura, K4    Nishizawa, M5    Steel, KP6    Brown, SDM7
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  • 14
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    • The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
    • D Weil P Kussel S Blanchard G Levy F Levi-Acobas F Drira H Ayadi The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene Nat Genet 16 1997 191 193
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.