Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6.
Ion
A
A
Crosby
A H
AH
Kremer
H
H
Kenmochi
N
N
Van Reen
M
M
Fenske
C
C
Van Der Burgt
I
I
Brunner
H G
HG
Montgomery
K
K
Kucherlapati
R S
RS
Patton
M A
MA
Page
C
C
Mariman
E
E
Jeffery
S
S
D048868:Adaptor Proteins, Signal Transducing; D024722:Cardiac Myosins; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D058575:Decorin; D016326:Extracellular Matrix Proteins; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D047908:Intracellular Signaling Peptides and Proteins; D018994:Myosin Light Chains / Q000235:genetics*; D009634:Noonan Syndrome / Q000235:genetics*; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D011509:Proteoglycans / Q000235:genetics*; D012269:Ribosomal Proteins / Q000235:genetics*
D048868:Adaptor Proteins, Signal Transducing; C546878:DCN protein, human; D058575:Decorin; C489989:EPS8 protein, human; D016326:Extracellular Matrix Proteins; D047908:Intracellular Signaling Peptides and Proteins; D018994:Myosin Light Chains; D011506:Proteins; D011509:Proteoglycans; D012269:Ribosomal Proteins; C107184:myosin light chain 2; C031249:ribosomal protein L6; D004247:DNA; D024722:Cardiac Myosins