In congenital dystrophic variety of epidermolysis bullosa, mutation is seen in the gene coding for:
ALaminin 4
BKeratin 14
CCollagen type 7
DAlpha 6 integrin
All of the following are tests done for Turner mosaic screening except?
AKaryotype
BFISH
CSerum FSH
DBuccal smear
34 week primigravida punjabi khatri comes with history of consanguineous marriage, with history of repeated blood transfusion to her sibling since 8 months of age. The first diagnostic test is -
AHPLC
BBone marrow
CBlood smear
DHb electrophoresis
+ 7 more in the PDF
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