A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis

Molecular Genetics and Metabolism

Volumn 99, Issue 2, 2010, Pages 184-185

  Caliebe, A ^a   Vater, I ^a   Plendl, H ^a   Gesk, S ^a   Siebert, R ^a   Cremer, F W ^b   Klein Hitpass, L ^c  

^a UNIVERSITY OF KIEL   (Germany)

^b Zentrum für Humangenetik   (Germany)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Canavan disease; Homozygous deletion; SNP array

Indexed keywords

ASPARTOACYLASE;

ASPA GENE; CANAVAN DISEASE; CASE REPORT; CHEMICAL ANALYSIS; CHILD; DEVELOPMENTAL DISORDER; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOSS; GENETIC ANALYSIS; GENOTYPE; HOMOZYGOSITY; HUMAN; LETTER; MACROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY;

ALLELES; AMIDOHYDROLASES; BASE PAIRING; CANAVAN DISEASE; CHILD; CHROMOSOMES, HUMAN, PAIR 17; EXONS; HOMOZYGOTE; HUMANS; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION;

EID: 73649107923     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.10.011     Document Type: Letter

References (4)

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