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PubMed 1937474 Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia. The steroid 21-hydroxylase enzyme 1.13 KB 2015-11-25 8 3
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PubMed 1682235 A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1. A deletion of a single base in codon 55 (exon 2) of the phenylalanine hydroxylase (PAH) gene has been 995 Bytes 2015-11-19 6 3
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PubMed 1718974 Functional insertion of the SV40 large T oncogene in cystic fibrosis intestinal epithelium. Characterization of CFI-3 cells. Intestinal epithelial cells were isolated from a fetus with cystic fibrosis 2.07 KB 2015-11-23 28 7
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PubMed 1719554 Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome. Mutations in the growth hormone receptor (GHR) gene can cause growth hormone (GH) resis 1.64 KB 2015-11-23 7 3
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PubMed 1721624 Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. Cy 1.64 KB 2015-11-23 7 3
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PubMed 1684745 Molecular biology and transgenetics of prion diseases. Considerable progress has been made deciphering the role of an abnormal isoform of the prion protein (PrP) in scrapie of animals and Gerstmann-St 1.8 KB 2015-11-19 4 5
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PubMed 1722323 Spectrum of mutations in aspartylglucosaminuria. Aspartylglucosaminuria (AGU) is an inherited lysosomal storage disorder caused by the deficiency of aspartylglucosaminidase. We have earlier reported a 982 Bytes 2015-11-23 8 5
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PubMed 1685324 Molecular genetics and transgenic model of Gertsmann-Sträussler-Scheinker disease. Gerstmann-Sträussler-Scheinker disease (GSS) is a rare, dominantly inherited neurodegenerative disease that can somet 1.12 KB 2015-11-19 7 3
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PubMed 1774074 A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Malignant hyperthermia (MH) is a devastating, potentially lethal respons 799 Bytes 2015-11-23 10 3
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PubMed 1775313 Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa. The authors report a family in which a Thr58Arg rhodopsin mutation co-segregates with the disease phenotype of aut 1.04 KB 2015-11-23 13 3
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