Search on: FIBRILLIN-2 
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Descriptor English:   Fibrillin-2 
Descriptor Spanish:   Fibrilina-2 
Descriptor Portuguese:   Fibrilina-2 
Synonyms English:   Fibrillin 2  
Tree Number:   D09.400.430.875.750
D12.776.395.341.750
D12.776.860.300.400.750
Definition English:   A fibrillin (FBN2) that functions to regulate the assembly of ELASTIC FIBERS. Mutations in the FBN2 gene are associated with congenital contractural ARACHNODACTYLY. 
History Note English:   2017; use FIBRILLIN 1985-2016 
Allowable Qualifiers English:  
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
Record Number:   56521 
Unique Identifier:   D000071840 

Occurrence in VHL: 		 

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