Molecular and clinical consequences of novel mutations in the arylsulfatase A gene

Clinical Genetics

Volumn 75, Issue 1, 2009, Pages 57-64

  Ługowska, Agnieszka ^a   Wlodarski, P ^b   Ploski R ^c   Mierzewska, D ^d   Dudzinska M ^e   Matheisel, A ^f   Swietochowska H ^b   Tylki Szymanska A ^g  

^a INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^b Department of Histology and Embryology ^*  (Poland)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

^d INSTITUTE OF MOTHER AND CHILD   (Poland)

^e Chorzowskie Centrum Pediatrii i Onkologii   (Poland)

^f MEDICAL UNIVERSITY OF GDANSK   (Poland)

^g CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Arylsulfatase A; Expression studies; Genotype; Lysosomal disease; Metachromatic leukodystrophy; Phenotype correlation

Indexed keywords

CEREBROSIDE SULFATASE; CYTOSINE; GUANINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; EXON; FRAMESHIFT MUTATION; GAIT DISORDER; GENE DUPLICATION; GENE FUNCTION; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC TRANSFECTION; GROWTH RETARDATION; HOMOZYGOSITY; HUMAN; INFANT; JUVENILE; MAMMAL CELL; METACHROMATIC LEUKODYSTROPHY; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE SPASM; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOGENESIS; POLAND; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYMPTOMATOLOGY; TONIC CLONIC SEIZURE; WILD TYPE;

ADOLESCENT; ADULT; ANIMALS; CEREBROSIDE-SULFATASE; CHILD; CHILD, PRESCHOOL; CHO CELLS; CRICETINAE; CRICETULUS; EXONS; FEMALE; HUMANS; INFANT; LEUKODYSTROPHY, METACHROMATIC; MALE; MUTATION; SEQUENCE ANALYSIS; YOUNG ADULT;

MAMMALIA;

EID: 58149181355     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01108.x     Document Type: Article

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