PMID- 10612851
OWN - NLM
STAT- MEDLINE
DCOM- 20000120
LR  - 20041117
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 15
IP  - 1
DP  - 2000 Jan
TI  - Novel mutation in the RYR1 gene (R2454C) in a patient with malignant
      hyperthermia.
PG  - 122
FAU - Gencik, M
AU  - Gencik M
AD  - Molecular Human Genetics, Ruhr-University Bochum, Germany.
FAU - Gencik, A
AU  - Gencik A
FAU - Mortier, W
AU  - Mortier W
FAU - Epplen, J T
AU  - Epplen JT
LA  - eng
SI  - GENBANK/J05200
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Ryanodine Receptor Calcium Release Channel)
SB  - IM
MH  - Amino Acid Substitution
MH  - Chromosomes, Human, Pair 19
MH  - Humans
MH  - Malignant Hyperthermia/*genetics
MH  - Molecular Sequence Data
MH  - Mutation, Missense
MH  - Ryanodine Receptor Calcium Release Channel/*genetics
EDAT- 1999/12/29 00:00
MHDA- 1999/12/29 00:01
CRDT- 1999/12/29 00:00
PHST- 1999/12/29 00:00 [pubmed]
PHST- 1999/12/29 00:01 [medline]
PHST- 1999/12/29 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU40>3.0.CO;2-A [pii]
AID - 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU40>3.0.CO;2-A [doi]
PST - ppublish
SO  - Hum Mutat. 2000 Jan;15(1):122. doi:
      10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU40>3.0.CO;2-A.