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V 参考文献

1.Weil D,Blanchard S,Kaplan J,Guilford P,Gibson F,et al:Defective myosin VIIA gene responsible for Usher syndrome type lB.Nature374:60-61,1995.

2.Weil D, Kussel P,Blanchard S,Levy G, Levi-Acobas F,et al:The autosomal recessive isolated deafness, DFNB2, and the Usher lB syndrome are allelic defects of the myosin-VIIA gene. Nature Genet 16:191-193,1997.

3.Tamagawa Y,Kitamura K,Ishida T,Ishikawa K,Tanaka H,et al:A gene for a dominant form of non-syndromic sensorineural deafness(DFNA11) maps within the region containing the DFNB2 recessive deafness gene.Hum Mol Genet5:849-852,1996.

4.Liu X-Z,Walsh J,Tamagawa Y,Kitamura K,Nisizawa M,et al: Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. (Letter)Nature Genet 17:268-269,1997.

5.Weil D,Levy G,Sahly I,Levi-Acobas F,Blanchard S,et al: Human myosin VIIA responsible for the Usher lB syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.Proc NatlAcad Sci USA 93:3232-3237,1996.

6.Guilford P,Ayadi H, Blanchard S,Chaib H, Le Paslier D, et al:A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mo1 Genet3:989-993,1994.

7.Weston MD, Kelley PM, Overbeck LD,Wagenaar M,Orten DJ,et al:Myosin VIIA mutation screenttg in 189 Usher syndrome type 1 patients.Am J Hum Genet59:1074-1083,1996.

8.Levy G,Levi-Acobas F,Blanchard S,Gerber S,Larget-Piet D, et al:Myosin VIIA gene:heterogeneity of the mutations responsible for Ushersyndrome type IB,Hum Mol Genet 6:111-116,1997.

9.Liu X-Z,Walsh J,Mburu P,Kendrick-Jones J,Cope MJTV, et al:Mutations in the mnyosin VIIA gene cause non-syndromic recessive deafness. Nature Genet 16:188-190,1997.

10.Adato A,Weil D,Kalinski H,Pel-Or Y,Ayadi H,et al Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis,in Usher lB families from diverse origins.Arm J Hum Genet 61:813-821,1997.

 

 

 

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