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List of abbreviations

A	adenine
APS	ammonium persulphate
Arg	arginine
ATP	adenosine triphosphate
Asn	asparagine
Asp	aspartic acid
bp	base pair
BSA	body surface area
10xBSA	10xbovine serum albumine
C	cytosine
Ca2+	calcium ion
cDNA	complementary DNA
Cys	cysteine
del	deletion
dATP	2‘-deoxyadenosie-5‘-triphosphate
dCTP	2‘-deoxycytidine-5‘-triphosphate
dGTP	2‘-deoxyguanosine-5‘-triphosphate
dTTP	2‘-deoxythymidine-5‘-triphosphate
ddATP	2‘,3‘-dideoxyadenosine-5‘-triphosphate
ddCTP	2‘,3‘-dideoxycytidine-5‘-triphosphate
ddGTP	2‘,3‘-dideoxyguanosine-5‘-triphosphate
ddNTP	2‘,3‘-dideoxynucleoside-5‘-triphosphate
ddTTP	2‘,3‘-dideoxthymidine-5‘-triphosphate
DNA	deoxyribonucleic acid
dNTP	2‘-deoxynucleotide-5‘-triphosphate
7-deaza-dGTP	7-deaza-2‘-deoxyguanosine-5‘triphosphate
E	glutamic acid

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ECG	electrocardiography
EDTA	ethylenediaminetetraacetic acid
EF-hand domain	calcium ion binding domain
ELC	essential light chain
FAM	5-carboxy-fluorescein
G	guanine
Gln	glutamine
Glu	glutamic acid
Gly	glycine
g	gram
h	hour
HCl	hydrochloric acid
HCM	hypertrophic cardiomyopathy
His	histidine
ICD	implantable cardioverter defibrillator
Ile	isoleucine
ins	insertion
IVS	interventricular septum
JOE	2‘, 7‘-dimethoxy-4‘, 5‘-dichloro-6-fluorescein
K	lysine
KCl	potassium chloride
Leu	leucine
Lys	lysine
LV	left ventricle
LVEED	left ventricle end-diastolic dimension
LVOT	left ventricular outflow tract

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M	molar (mol/l)
Maron type	type of left ventricular hypertrophy distribution
Met	methionine
MDE-solution	mutation detection enchancement solution
MDE-F	MDE solution with formamide
mg	milligram
min	minute
ml	milliliter
mM	millimolar
MLC-1s/v	myosin light chain 1 slow/ventricular
MLC-2s/v	myosin light chain 2 slow/ventricular
mmol	milimol
MYL2	ventricular myosin regulatory light chain gene
MYL3	ventricular myosin essential light chain gene
µl	microliter
NaCl	sodium chloride
ng	nanogram
nm	nanometer
N-terminal	amino terminal
10xNEBuffer	New England Biolabs buffer
NYHA class	New York Heart Association class of heart failure
6% PAA	6% polyacrylamide gel solution
PCR	polymerase chain reaction
pH	negative log of hydrogen ion concentration
Phe	phenylalanine
PW	posterior wall
Pro	proline
Q	glutamine
R	arginine

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Ref	reference
RFLP	restriction fragment length polymorphism
RLC	regulatory light chain
ROX	6-carboxy-X-rhodamin
rpm	revolutions per minute
SAM	systolic anterior motion of mitral valve
SCD	sudden cardiac death
sec	second
Ser	serine
SDS	sodium dodecyl sulfate
SNP	single nucleotide polymorphism
Sty I	restriction enzyme
SSCP	single strand conformation polymorphism
T	thymine
TAMRA	N, N, N‘, N‘-tetramethyl-6-carboxyrhodamin
Taq I	restriction enzyme
TBE	Tris-Boric acid-EDTA buffer
TEMED	N, N, N‘, N‘-tetramethyl-ethylendiamine
Tris	tris (hydroxymethyl)-aminomethane
Trp	tryptophan
Tyr	tyrosine
Val	valine

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