New Developments in Congenital LipHyperplasia and Steroidogenic Acute Regulatory Proteinoid Adrenal  

Oleh:

Saenger, Paul

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Pediatric Clinics of North America vol. 44 no. 02 (Apr. 1997), page 397.

Ketersediaan

Perpustakaan FK Nomor Panggil: P13.K.1997.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

Patients with lipoid adrenal hyperplasia cannot convert cholesterol to pregnenolone in vitro. The P450 side-chain cleavage gene is normal. Recently a novel mitochondrial protein, which is the mediator of the acute steroidogenic response, termed steroidogenic acute regulatory protein (StAR), was cloned. Mutations in the gene for StAR have been found in families affected with lipoid adrenal hyperplasia.

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