Disease Chromosome Flashcards
12q24
PHENYLKETONURIA
9q22
XERODERMA PIGMENTOSUM
BETA-GLOBULIN
SCA
7q31.2
Cf
FGR3
ACHONDROPLASIA
LDLR
FAMILIAL
HYPERCHOLESTEROLEMIA
15q21.1
MARFAN SYNDROME
DMD
DUCHENNE MUSCULAR DYSTROPHY
FACTOR VIII
FACTOR IX
HEMOPHILIA A
FMR1
FRAGILE-X SYNDROME
HPRT/HGPRT
LESCH-NYHAN SYNDROME
Xp22
X-LINKED HYPOPHOSPHATEMIA OR
VITAMIN D RESISTANT RICKET
PHEX
X-LINKED HYPOPHOSPHATEMIA OR
VITAMIN D RESISTANT RICKET
GBM
TYPE 4 COLLAGEN
Alport syndrome
phosphate regulating endopeptidase X-linked
X-LINKED HYPOPHOSPHATEMIA OR
VITAMIN D RESISTANT RICKETS
fragile X messenger ribonucleoprotein
Fragile x
Hypoxanthine-guanine phosphoribosyltransferase
Lesch nyhan
Dystrophin
DUCHENNE MUSCULAR DYSTROPHY
(DMD)
Xeroderma pigmentosum complementation group A
Xp