Population carrier rates of pathogenic ARSA gene mutations: Is metachromatic leukodystrophy underdiagnosed?

PLoS ONE

Volumn 6, Issue 6, 2011, Pages

  Ługowska, Agnieszka ^a   Ponińska, Joanna ^b   Krajewski, Paweł ^b   Broda, Grazyna ^c   Płoski, Rafał ^b  

^a INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c INSTITUTE OF CARDIOLOGY   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE;

ADULT; ARTICLE; ARYLSULFATASE A GENE; BIRTH RATE; CONTROLLED STUDY; DISEASE ASSOCIATION; EPIDEMIOLOGICAL DATA; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; MALE; METACHROMATIC LEUKODYSTROPHY; NONHUMAN; PATHOGENESIS; POLAND; PREDICTION; PREVALENCE; ADOLESCENT; AGED; CASE CONTROL STUDY; COHORT ANALYSIS; ENZYMOLOGY; GENETICS; MIDDLE AGED; MUTATION; POPULATION GENETICS;

ADOLESCENT; ADULT; AGED; CASE-CONTROL STUDIES; CEREBROSIDE-SULFATASE; COHORT STUDIES; FEMALE; GENETIC TESTING; GENETICS, POPULATION; HETEROZYGOTE; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MALE; MIDDLE AGED; MUTATION; POLAND; PREVALENCE; YOUNG ADULT;

EID: 79958757475     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0020218     Document Type: Article

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