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Splicing mutation inCYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia

โœ Scribed by Kohn, Brenda ;Day, Darren ;Alemzadeh, Ramin ;Enerio, Devi ;Patel, Sanjivan V. ;Pelczar, Joseph V. ;Speiser, Phyllis W.


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
490 KB
Volume
57
Category
Article
ISSN
0148-7299

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Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating p