PMID- 10425042
OWN - NLM
STAT- MEDLINE
DCOM- 19990812
LR  - 20131121
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 2
DP  - 1999 Aug 19
TI  - A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated
      with connatal Pelizaeus-Merzbacher disease.
PG  - 182
FAU - Yamamoto, T
AU  - Yamamoto T
AD  - Gene Research Center, Tottori University, Yonago 683-8503, Japan.
FAU - Nanba, E
AU  - Nanba E
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Myelin Proteolipid Protein)
RN  - 2ZD004190S (Threonine)
RN  - OF5P57N2ZX (Alanine)
SB  - IM
MH  - Alanine/genetics
MH  - Diffuse Cerebral Sclerosis of Schilder/*genetics
MH  - Humans
MH  - Male
MH  - Myelin Proteolipid Protein/*genetics
MH  - Point Mutation
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - Threonine/genetics
EDAT- 1999/07/29 00:00
MHDA- 1999/07/29 00:01
CRDT- 1999/07/29 00:00
PHST- 1999/07/29 00:00 [pubmed]
PHST- 1999/07/29 00:01 [medline]
PHST- 1999/07/29 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)14:2<182::AID-HUMU12>3.0.CO;2-Y [pii]
AID - 10.1002/(SICI)1098-1004(1999)14:2<182::AID-HUMU12>3.0.CO;2-Y [doi]
PST - ppublish
SO  - Hum Mutat. 1999 Aug 19;14(2):182. doi:
      10.1002/(SICI)1098-1004(1999)14:2<182::AID-HUMU12>3.0.CO;2-Y.