30.6.2013(biochem-molecular Bio 1)53 Flashcards
(6 cards)
0
Q
Defect in rothmund Thomson syndrome
A
Rec Q DNA helicase
1
Q
Rothmund Thomson syndrome
A
Poikiloderma congenitale
2
Q
Physiological DNA double stranded breaks
A
V(D)J recombination Ig class switching
3
Q
Gene mutated in Nijmen breakage syndrome
A
nibrin a product of NBS1 gene
4
Q
Nijmegen breakage syndrome
A
Microcephaly
Growth retardation
Failure of development of secondary sexual characters
Recurrent infections due to immunodeficiency
Malignancies(DLBL,LBL)
Cafe au lait spots
5
Q
Ideal stones for ESWL
A
Renal stones less than 2cm
Ureter stones less than 1cm
