PMID- 10564886
OWN - NLM
STAT- MEDLINE
DCOM- 19991230
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 87
IP  - 3
DP  - 1999 Nov 26
TI  - Novel missense mutation (Y231C) in a turkish patient with canavan disease.
PG  - 273-5
FAU - Rady, P L
AU  - Rady PL
FAU - Vargas, T
AU  - Vargas T
FAU - Tyring, S K
AU  - Tyring SK
FAU - Matalon, R
AU  - Matalon R
FAU - Langenbeck, U
AU  - Langenbeck U
LA  - eng
PT  - Case Reports
PT  - Comment
PT  - Letter
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - EC 3.5.- (Amidohydrolases)
RN  - EC 3.5.1.15 (aspartoacylase)
SB  - IM
CON - Am J Med Genet. 1988 Feb;29(2):463-71. PMID: 3354621
MH  - Amidohydrolases/deficiency/*genetics
MH  - Amino Acid Substitution
MH  - Canavan Disease/*genetics
MH  - Consanguinity
MH  - Female
MH  - Humans
MH  - Infant, Newborn
MH  - Muscle Hypotonia/genetics
MH  - *Mutation, Missense
MH  - Turkey
EDAT- 1999/11/24 00:00
MHDA- 1999/11/24 00:01
CRDT- 1999/11/24 00:00
PHST- 1999/11/24 00:00 [pubmed]
PHST- 1999/11/24 00:01 [medline]
PHST- 1999/11/24 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19991126)87:3<273::AID-AJMG17>3.0.CO;2-O [pii]
AID - 10.1002/(sici)1096-8628(19991126)87:3<273::aid-ajmg17>3.0.co;2-o [doi]
PST - ppublish
SO  - Am J Med Genet. 1999 Nov 26;87(3):273-5. doi:
      10.1002/(sici)1096-8628(19991126)87:3<273::aid-ajmg17>3.0.co;2-o.