Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease

Genetics in Medicine

Volumn 8, Issue 6, 2006, Pages 371-378

  Hurst, Stephanie ^a   Garbern, James ^a   Trepanier, Angela ^a   Gow, Alexander ^a  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Leukodystrophy; Lyonization; Myelin; Oligodendrocytes; X inactivation

Indexed keywords

PROTEOLIPID PROTEIN; MEMBRANE PROTEIN; PLP1 PROTEIN, HUMAN;

ALLELE; ANALYSIS OF VARIANCE; DISEASE CARRIER; DISEASE SEVERITY; FAMILY; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC LINKAGE; HIGH RISK POPULATION; HUMAN; MEDICAL RECORD; MISSENSE MUTATION; NONSENSE MUTATION; PARAMETER; PEDIGREE; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; QUANTITATIVE ANALYSIS; RELATIVE; REVIEW; RISK ASSESSMENT; SPASTIC PARAPLEGIA; STUDENT T TEST; UNITED STATES; ARTICLE; EPIDEMIOLOGY; FEMALE; GENETICS; HETEROZYGOTE; HOSPITALIZATION; MALE; MUTATION; RISK;

ALLELES; EPIDEMIOLOGY, MOLECULAR; FEMALE; GENE DUPLICATION; GENETIC COUNSELING; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; MYELIN PROTEOLIPID PROTEIN; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE; PHENOTYPE; RISK; SEVERITY OF ILLNESS INDEX;

EID: 33746890542     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000223551.95862.c3     Document Type: Review

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