Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease

Molecular Genetics and Metabolism

Volumn 89, Issue 1-2, 2006, Pages 156-163

  Zeng, B J ^a   Wang, Z H ^a   Torres, P A ^a   Pastores, G M ^a   Leone, P ^b   Raghavan, S S ^a   Kolodny, E H ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

Author keywords

Aspartoacylase gene; Canavan disease; Human; Large deletion

Indexed keywords

ASPARTOACYLASE; DNA FRAGMENT; GENOMIC DNA; RESTRICTION ENDONUCLEASE;

ARTICLE; CANAVAN DISEASE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SEIZURE; SYMPTOM;

AMIDOHYDROLASES; CANAVAN DISEASE; CASE-CONTROL STUDIES; COHORT STUDIES; GENE DELETION; GENETIC SCREENING; GENOME, HUMAN; HUMANS; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 33746978648     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.05.014     Document Type: Article

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