Literature DB >> 1723056

A de novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene.

M B White1, M Leppert, D Nielsen, J Zielenski, B Gerrard, C Stewart, M Dean.   

Abstract

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Year:  1991        PMID： 1723056     DOI： 10.1016/0888-7543(91)90092-s

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  6 in total

1.  De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.

Authors:  B Wirth; T Schmidt; E Hahnen; S Rudnik-Schöneborn; M Krawczak; B Müller-Myhsok; J Schönling; K Zerres
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

2.  Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

Authors:  Els Dequeker; Manfred Stuhrmann; Michael A Morris; Teresa Casals; Carlo Castellani; Mireille Claustres; Harry Cuppens; Marie des Georges; Claude Ferec; Milan Macek; Pier-Franco Pignatti; Hans Scheffer; Marianne Schwartz; Michal Witt; Martin Schwarz; Emmanuelle Girodon
Journal:  Eur J Hum Genet       Date:  2008-08-06       Impact factor: 4.246

3.  A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia.

Authors:  Thanh-Thanh Claire V Tran; Ying Liu; Michael E Zwick; Dhanya Ramachandran; David J Cutler; Xiaoping Huang; Gerard T Berry; Judith L Fridovich-Keil
Journal:  JIMD Rep       Date:  2015-02-15

Review 4.  Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.

Authors:  Joel Zlotogora
Journal:  Hum Genet       Date:  2004-03-16       Impact factor: 4.132

5.  Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report.

Authors:  Angélica Martínez-Hernández; Julieta Larrosa; Francisco Barajas-Olmos; Humberto García-Ortíz; Elvia C Mendoza-Caamal; Cecilia Contreras-Cubas; Elaheh Mirzaeicheshmeh; José Luis Lezana; Lorena Orozco
Journal:  BMC Med Genomics       Date:  2019-05-22       Impact factor: 3.063

6.  Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Authors:  Hanaa Hasan Banjar; Lin Tuleimat; Abdul Aziz Agha El Seoudi; Ibrahim Mogarri; Sami Alhaider; Imran Yaqoob Nizami; Talal AlMaghamsi; Sara Andulrahman Alkaf; Nabil Moghrabi
Journal:  Ann Saudi Med       Date:  2020-02-06       Impact factor: 1.526
  6 in total

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