The use of DHPLC technology to detect PLP gene mutations in Pelizaeus-Merzbacher patients

被引:0
|
作者
Donohoe, E [1 ]
Baty, DU [1 ]
机构
[1] Ninewells Hosp, Human Genet Unit, Mol Genet Lab, Dundee DD1 9SY, Scotland
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
622
引用
收藏
页码:S77 / S77
页数:1
相关论文
共 50 条
  • [21] Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications
    Regis, S.
    Biancheri, R.
    Bertini, E.
    Burlina, A.
    Lualdi, S.
    Bianco, M. G.
    Devescovi, R.
    Rossi, A.
    Uziel, G.
    Filocamo, M.
    CLINICAL GENETICS, 2008, 73 (03) : 279 - 287
  • [22] NEW VARIANT IN EXON 3 OF THE PROTEOLIPID PROTEIN (PLP) GENE IN A FAMILY WITH PELIZAEUS-MERZBACHER DISEASE
    PRATT, VM
    TROFATTER, JA
    LARSEN, MB
    HODES, ME
    DLOUHY, SR
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (03): : 642 - 646
  • [23] Neuronal system degeneration in Pelizaeus-Merzbacher disease with PLP1 gene duplication.
    Pierson, CR
    Garbern, J
    Golden, JA
    Kupsky, W
    Sima, AA
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2002, 61 (05): : 450 - 450
  • [24] Connatal Pelizaeus-Merzbacher disease: A missense mutation in exon 4 of the proteolipid protein (PLP) gene
    M. Nagao
    Jun-ichi Kadowaki
    Journal of Human Genetics, 1998, 43 : 206 - 208
  • [25] Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients
    Mikesova, Emilie
    Barankova, Lucia
    Sakmaryova, Iva
    Tatarkova, Iva
    Seeman, Pavel
    GENETIC TESTING, 2006, 10 (03): : 215 - 220
  • [26] Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease
    Lassuthova, Petra
    Zaliova, Marketa
    Inoue, Ken
    Haberlova, Jana
    Sixtova, Klara
    Sakmaryova, Iva
    Paderova, Katerina
    Mazanec, Radim
    Zamecnik, Josef
    Siskova, Dana
    Garbern, Jim
    Seeman, Pavel
    JOURNAL OF CHILD NEUROLOGY, 2014, 29 (07) : 924 - 931
  • [27] A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease
    Prior, Carmen
    Munoz-Calero, Maria
    Gomez-Gonzalez, Clara
    Martinez-Montero, Paloma
    Barrio, Luis
    Poo, Pilar
    Martorell, Loreto
    Molano, Jesus
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2019, 397 : 135 - 137
  • [28] PELIZAEUS-MERZBACHER DISEASE IN A FAMILY OF PORTUGUESE ORIGIN CAUSED BY A POINT MUTATION IN EXON 5 OF THE PLP GENE
    PRATT, VM
    BOYADJEV, S
    DLOUHY, S
    SILVER, K
    DERKALOUSTIAN, V
    HODES, ME
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1751 - 1751
  • [29] COMPLETE DELETION OF THE PROTEOLIPID PROTEIN GENE (PLP) IN A FAMILY WITH X-LINKED PELIZAEUS-MERZBACHER DISEASE
    RASKIND, WH
    WILLIAMS, CA
    HUDSON, LD
    BIRD, TD
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (06) : 1355 - 1360
  • [30] PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report
    Madry, Jacek
    Hoffman-Zacharska, Dorota
    Krolicki, Leszek
    Jakucinski, Maciej
    Friedman, Andrzej
    NEUROLOGIA I NEUROCHIRURGIA POLSKA, 2010, 44 (05) : 511 - 515