A new proteolipid lipoprotein mutation in Pelizæus-Merzbacher disease
暂无分享,去创建一个
W. Verhagen | W. Renier | P. Huygen | I. Wijs | H. Smeets
[1] H. Osaka,et al. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. , 1996, American journal of human genetics.
[2] M. Hodes,et al. The proteolipid protein gene: double, double, ... and trouble. , 1996, American journal of human genetics.
[3] M. Hodes,et al. Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus. , 1995, American journal of medical genetics.
[4] F. Seitelberger. Neuropathology and Genetics of Pelizaeus‐Merzbacher Disease , 1995, Brain pathology.
[5] M. Hodes,et al. In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease. , 1995, American journal of medical genetics.
[6] M. Hodes,et al. Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene. , 1995, American journal of medical genetics.
[7] M. Hodes,et al. PELIZAEUS-MERZBACHER DISEASE CAUSED BY DE NOVO MUTATION , 1993 .
[8] W. Verhagen,et al. Oculomotor and vestibular anomalies in Pelizæus-Merzbacher disease: A study on a kindred with 2 affected and 3 normal males, 3 obligate and 8 possible carriers , 1992, Journal of the Neurological Sciences.
[9] M. Hodes,et al. Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[10] J. Berndt,et al. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[11] W. Stoffel,et al. Individual exons encode the integral membrane domains of human myelin proteolipid protein. , 1986, Proceedings of the National Academy of Sciences of the United States of America.
[12] H. Willard,et al. Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. , 1985, Science.
[13] M. Hodes,et al. Genetics of Pelizaeus-Merzbacher disease. , 1993, Developmental neuroscience.