Breaking away from home

American Journal of Human Genetics

Volumn 67, Issue 1, 2000, Pages 1-3

  Hudson, L D ^a  

^a MSC 4160   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME XQ; EDITORIAL; GENE DUPLICATION; GENE LOCUS; HUMAN; INHERITANCE; NONHUMAN; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL;

EID: 0033925655     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302982     Document Type: Article

References (12)

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2. X-Y Hu PN Ray EG Murphy MS Thompson RG Worton Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotype/genotype correlation Am J Hum Genet 46 1990 682 695
3. LD Hudson Pelizaeus-Merzbacher disease and the allelic disorder X-linked spastic paraplegia type 2 CR Scriver AL Beaudet WS Sly D Valle B Childs B Vogelstein Molecular and metabolic bases for inherited disease 8th ed 2000 McGraw-Hill New York
4. K Inoue H Osaka K Imaizumi A Nezu J Takanashi J Arii K Murayama Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations Ann Neurol 45 1999 624 632
5. J Jurka Repeats in genomic DNA: mining and meaning Curr Opin Struct Biol 8 1998 333 337
6. D-J Kleinjan V van Heyningen Position effect in human genetic disease Hum Mol Genet 7 1998 1611 1618
7. JR Lupski Charcot-Marie-Tooth disease: lessons in genetic mechanisms Mol Med 4 1998 3 11
8. C Mimault G Giraud V Courtois F Cailloux JY Boire B Dastugue O Boespflug-Tanguy Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not Am J Hum Genet 65 1999 360 369
9. LT Reiter PJ Hastings E Nelis P De Jonghe C Van Broeckhoven JR Lupski Human meiotic recombination products revealed by sequencing a homologous strand exchange in multiple HNPP deletion patients Am J Hum Genet 62 1998 1023 1033
10. EA Sistermans RFM de Coo IJ De Wijs BA Van Oost Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease Neurology 50 1998 1749 1754
11. P-J Wang W-L Hwu W-T Lee T-R Wang Y-Z Shen Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease Pediatr Neurol 17 1997 125 128
12. K Woodward E Kendall D Vetrie S Malcolm Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH Am J Hum Genet 63 1998 207 217