Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease

Brain and Development

Volumn 32, Issue 10, 2010, Pages 879-882

  Zhang, Huiwen ^a   Liu, Xiaoqin ^a   Gu, Xuefan ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Aspartoacylase; Canavan disease; Mutation

Indexed keywords

ASPARTOACYLASE; GENOMIC DNA;

AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; BINDING SITE; CANAVAN DISEASE; CASE REPORT; CHINESE; CODON; DNA SEQUENCE; ENZYME SUBSTRATE COMPLEX; HETEROZYGOTE; HUMAN; INFANT; IRRITABILITY; MALE; MISSENSE MUTATION; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING;

AMIDOHYDROLASES; ASIAN CONTINENTAL ANCESTRY GROUP; BINDING SITES; BRAIN; CANAVAN DISEASE; CHINA; CODON; DNA; EXONS; HEAD; HUMANS; INFANT; INTRONS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 77957929987     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2010.01.001     Document Type: Article

References (10)

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