Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease

Clinical Genetics

Volumn 73, Issue 3, 2008, Pages 288-289

  Velinov, Milen ^a   Zellers, N ^a   Styles, J ^a   Wisniewski, K ^a  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ASPARTOACYLASE; GUANINE; N ACETYLASPARTIC ACID;

AUTOSOMAL RECESSIVE DISORDER; CANAVAN DISEASE; CASE REPORT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISEASE SEVERITY; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; LETTER; MOTOR DYSFUNCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTON NUCLEAR MAGNETIC RESONANCE; SPEECH DISORDER; WHITE MATTER;

ALANINE; AMIDOHYDROLASES; AMINO ACID SUBSTITUTION; ASPARTIC ACID; CANAVAN DISEASE; CHILD, PRESCHOOL; FEMALE; GLYCINE; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION;

EID: 38949128327     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00934.x     Document Type: Letter

References (6)

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