PMID- 10407784
OWN - NLM
STAT- MEDLINE
DCOM- 19990923
LR  - 20190831
IS  - 0141-8955 (Print)
IS  - 0141-8955 (Linking)
VI  - 22
IP  - 4
DP  - 1999 Jun
TI  - The spectrum of mutations of the aspartoacylase gene in Canavan disease in
      non-Jewish patients.
PG  - 531-4
AB  - Canavan disease is an infantile neurodegenerative disease that is caused by
      mutations in the gene encoding the enzyme aspartoacylase. It has mainly been
      reported in Jewish families. Genotyping of newly diagnosed patients is essential 
      for the carrier identification and prenatal diagnosis. The sequence of the coding
      region was determined in 15 non-Jewish patients and 9 new mutations were
      identified: Y109X, P183H, V186F, M195R, P280L, P280S, A287T, 245insA, and a
      tentative missplicing mutation which leads to skipping of exon 5. The common
      pan-European mutation, A305E, was identified in 40% of the alleles and the
      overall detection rate was 93%.
FAU - Elpeleg, O N
AU  - Elpeleg ON
AD  - Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
FAU - Shaag, A
AU  - Shaag A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Inherit Metab Dis
JT  - Journal of inherited metabolic disease
JID - 7910918
RN  - 30KYC7MIAI (Aspartic Acid)
RN  - 997-55-7 (N-acetylaspartate)
RN  - EC 3.5.- (Amidohydrolases)
RN  - EC 3.5.1.15 (aspartoacylase)
SB  - IM
MH  - Amidohydrolases/deficiency/*genetics
MH  - Aspartic Acid/analogs & derivatives/urine
MH  - Canavan Disease/*enzymology/genetics
MH  - Humans
MH  - Jews
MH  - *Mutation
EDAT- 1999/07/17 00:00
MHDA- 1999/07/17 00:01
CRDT- 1999/07/17 00:00
PHST- 1999/07/17 00:00 [pubmed]
PHST- 1999/07/17 00:01 [medline]
PHST- 1999/07/17 00:00 [entrez]
AID - 10.1023/a:1005512524957 [doi]
PST - ppublish
SO  - J Inherit Metab Dis. 1999 Jun;22(4):531-4. doi: 10.1023/a:1005512524957.