Expresión de búsqueda:
NEUROFIBROMIN 1
Descriptores Encontrados:
1
Mostrando:
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DeCS
Descriptor
Inglés
:
Neurofibromin 1
Descriptor
Español
:
Neurofibromina 1
Descriptor
Portugués
:
Neurofibromina 1
Sinónimos
Inglés
:
Neurofibromatosis Type 1 Protein
Categoría:
D12.644.360.325.150.500.460
D12.776.476.325.150.500.460
D12.776.624.776.610
Definición
Inglés
:
A protein found most abundantly in the
nervous system
. Defects or deficiencies in this protein are associated with
NEUROFIBROMATOSIS 1
, Watson
syndrome
, and
LEOPARD syndrome
. Mutations in the gene (GENE,
NEUROFIBROMATOSIS 1
)
affect
two known functions: regulation of ras-GTPase and tumor
suppression.
Relacionados
Inglés
:
Genes, Neurofibromatosis 1
Neurofibromatosis 1
Nota Histórica
Inglés
:
2002
Calificadores Permitidos
Inglés
:
AD
administration & dosage
AE
adverse effects
AG
agonists
AN
analysis
AI
antagonists & inhibitors
BI
biosynthesis
BL
blood
CF
cerebrospinal fluid
CS
chemical synthesis
CH
chemistry
CL
classification
CT
contraindications
DF
deficiency
DE
drug effects
EC
economics
GE
genetics
HI
history
IM
immunology
IP
isolation & purification
ME
metabolism
PK
pharmacokinetics
PD
pharmacology
PH
physiology
PO
poisoning
RE
radiation effects
SE
secretion
ST
standards
SD
supply & distribution
TU
therapeutic use
TO
toxicity
UL
ultrastructure
UR
urine
Número del Registro:
36217
Identificador Único:
D025542
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS