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A nonsense mutation in the tyrosinase gene causes albinism in water buffalo
(Biomed Central Ltd., 2014)
A nonsense mutation in the tyrosinase gene causes albinism in water buffalo
(Biomed Central Ltd., 2012-07-20)
Background: Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to ...
A nonsense mutation in the tyrosinase gene causes albinism in water buffalo
(Biomed Central Ltd., 2012-07-20)
Background: Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to ...
Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefevre syndrome
(Elsevier B.V., 2002-06-01)
Papillon-Lefevre syndrome (PLS) is an autosomal recessive palmoplantar keratoderma caused by cathepsin C (CTSC) gene mutations. This study reports CTSC mutational and enzyme analyses in a consanguineous Brazilian family ...
Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay
(WILEY-BLACKWELL, 2011)
Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly, obesity, and other congenital malformations, is caused by mutations in RAB23, encoding a member ...
A novel nonsense mutation 6,E-X in the protein S gene causes type I deficiency
(KargerBaselSuíça, 1999)
Nonsense-Associated Alternative Splicing of the Human Thyroglobulin Gene
(Springer, 2012-12-01)
Introduction: We have described in previous articles a nonsense mutation (4588C>T, R1511X) in exon 22 of the thyroglobulin (TG) gene in a member of a family with a complex history of congenital goiter. In the mutated thyroid ...
Nonsense Mutations in FGF8 Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency
(ENDOCRINE SOC, 2010)
Context: FGFR1 mutations cause isolated hypogonadotropic hypogonadism (IHH) with or without olfactory abnormalities, Kallmann syndrome, and normosmic IHH respectively. Recently, missense mutations in FGF8, a key ligand for ...