Characterization of a basic transthyretin variant - TTR Arg 102 - in the German population

Autor:	MaryAnn Gawinowicz, Maria do Rosário Almeda, Paul Moreira, Silke Rauh, Pedro P. Costa, Maria João Saraiva, Klaus Altland
Rok vydání:	1991
Předmět:	endocrine system Proline Arginine Molecular Sequence Data Polypeptide chain Peptide Mapping Polymerase Chain Reaction chemistry.chemical_compound German population Pregnancy Polymorphism (computer science) Germany Humans Prealbumin Genetic Testing Molecular Biology Genetics Base Sequence biology Chemistry Peptide mapping Genetic Variation nutritional and metabolic diseases Amyloidosis Exons Molecular biology Transthyretin Mutation biology.protein Molecular Medicine Female Polymorphism Restriction Fragment Length DNA
Zdroj:	Scopus-Elsevier CIÊNCIAVITAE
ISSN:	0925-4439
DOI:	10.1016/0925-4439(91)90039-c
Popis:	A basic transthyretin (TTR) variant, apparently non-pathogenic, has been reported in a German family. Protein analysis of this TTR variant revealed the substitution of arginine for proline at position 102 of the TTR polypeptide chain. This result was confirmed by DNA analysis of PCR amplified DNA.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0975649689a9d584867528f6a657ffb3 https://doi.org/10.1016/0925-4439(91)90039-c Zobrazit plný text záznamu