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Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia

โœ Scribed by Dr. Noriyuki Katsumata; Ayako Tanae; Takashi Shinagawa; Atsuko Nagashima-Miyokawa; Mayumi Shimizu; Toru Yasunaga; Toshiaki Tanaka; Itsuro Hibi

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
610 KB
Volume
11
Category
Article
ISSN
1059-7794

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A novel frameshift mutation 840delA and
A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia
โœ Noriyuki Katsumata; Ayako Tanae; Takashi Shinagawa; Atsuko Nagashima-Miyokawa; M ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 30 KB ๐Ÿ‘ 1 views

Congenital lipoid adrenal hyperplasia (CLAH) is an autosomalrecessive disorder characterized by impaired production of allsteroids including glucocorticoids, mineralocorticoids and sexsteroids. It has recently been reported that mutations in thesteroidogenic acute regulatory protein (StAR) gene caus

A novel frameshift mutation (141delT) in
A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia
โœ Nils Krone; Andreas Braun; Adelbert Anton Roscher; Hans Peter Schwarz ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 349 KB ๐Ÿ‘ 2 views

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