Literature DB >> 8990021

Phenylketonuria splice mutation (EXON6nt-96A-->g) masquerading as missense mutation (Y204C).

S Ellingsen1, P M Knappskog, H G Eiken.   

Abstract

Entities:  

Mesh：

Year:  1997        PMID： 8990021     DOI： 10.1002/(SICI)1098-1004(1997)9:1<88::AID-HUMU21>3.0.CO;2-K

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  6 in total

1.  PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.

Authors:  P M Nowacki; S Byck; L Prevost; C R Scriver
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

2.  The Genetic Landscape and Epidemiology of Phenylketonuria.

Authors:  Alicia Hillert; Yair Anikster; Amaya Belanger-Quintana; Alberto Burlina; Barbara K Burton; Carla Carducci; Ana E Chiesa; John Christodoulou; Maja Đorđević; Lourdes R Desviat; Aviva Eliyahu; Roeland A F Evers; Lena Fajkusova; François Feillet; Pedro E Bonfim-Freitas; Maria Giżewska; Polina Gundorova; Daniela Karall; Katya Kneller; Sergey I Kutsev; Vincenzo Leuzzi; Harvey L Levy; Uta Lichter-Konecki; Ania C Muntau; Fares Namour; Mariusz Oltarzewski; Andrea Paras; Belen Perez; Emil Polak; Alexander V Polyakov; Francesco Porta; Marianne Rohrbach; Sabine Scholl-Bürgi; Norma Spécola; Maja Stojiljković; Nan Shen; Luiz C Santana-da Silva; Anastasia Skouma; Francjan van Spronsen; Vera Stoppioni; Beat Thöny; Friedrich K Trefz; Jerry Vockley; Youngguo Yu; Johannes Zschocke; Georg F Hoffmann; Sven F Garbade; Nenad Blau
Journal:  Am J Hum Genet       Date:  2020-07-14       Impact factor: 11.025

3.  Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.

Authors:  Lukana Ngiwsara; Nithiwat Vatanavicharn; Phannee Sawangareetrakul; Somporn Liammongkolkul; Pisanu Ratanarak; Boonchai Boonyawat; Chantragan Srisomsap; Voraratt Champattanachai; James Ketudat-Cairns; Pornswan Wasant; Jisnuson Svasti
Journal:  Mol Biol Rep       Date:  2021-03-07       Impact factor: 2.316

4.  Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

Authors:  Angel L Pey; Francois Stricher; Luis Serrano; Aurora Martinez
Journal:  Am J Hum Genet       Date:  2007-10-02       Impact factor: 11.025

5.  Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.

Authors:  Pongsathorn Chaiyasap; Chupong Ittiwut; Chalurmpon Srichomthong; Apiruk Sangsin; Kanya Suphapeetiporn; Vorasuk Shotelersuk
Journal:  BMC Med Genet       Date:  2017-09-16       Impact factor: 2.103

6.  Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

Authors:  Ainhoa Martínez-Pizarro; Maja Dembic; Belén Pérez; Brage S Andresen; Lourdes R Desviat
Journal:  PLoS Genet       Date:  2018-04-23       Impact factor: 5.917
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.