Article
A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism - 1 Dec 2003
Tukel T, Uyguner O, Wei J Q, Yuksel-Apak M, Saka N, Song D X, Kayserili H, Bas F, Gunoz H, Wilson R C, New M I, Wollnik B
Abstract excerpt
21-Hydroxylase deficiency is a recessively inherited disorder resulting from mutations in the CYP21 gene. The CYP21 gene is located along with the CYP21P pseudogene in the human leukocyte antigen major histocompatibility complex region on chromosome 6. Molecular diagnosis is difficult due to the 98% similarity of CYP21 and CYP21P genes and the fact that almost all frequently reported mutations reside on the...
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