Card Set Information
Cerebral Vein thrombosis, Deep Vein thrombosis
clotting factor V
absence of colonic ganglionic cells
ReT, Ligand gdnf, endothelium B receptor..ligand endothelium
Mutation in intron
Type 1 DM
HLA-DR3 or HLA-DR4
other gene mutations present
Beta cell destruction via autoimmunity
epsilon4 allele of apoE
Environmental cause of Anencephaly, Spina Bifida
Folic acid deficiency in maternal blood
Cleft Lip and Cleft Palate
transcription factors TBX1,MSX1, IRF6, FGFR1
x linked recessive disorders
Lesch Nyhan syndrom
Duchenne and Becker muscular dystrophy
Hemophilia A and B(Christmas)
Trinucleotide repeat expansion diseases
(Try Hunting for My Fried eggs(X)
Fragile X syndrom
Down syndrom-Ch 21
Edwards Syndrome-Ch 18
Patau Syndrom-Ch 13
Methemoglobin carries what?
Methemoglobin is transmitted how?
Methemoglonin is also called what?
Hb Hyde park
What results from Hb Kempsey?
polycythemia---impaired Oxygen delivery to tissues
Hb Tak results from ?
2 b.p insertion..frame shift mutation
increased oxygen affinity
Which Hb displays novel function?
Whats the only lipid component of ETC?
Copper is used by what complex in the ETC?
Loss of all alpha genes results in what?
In which thalasemia would you see extramedullary erythropoeises and medullary expansion?
Frontal bossing and a chipmunk, hepatomegally is seem when?
Iron overload is risky in what gender/?