Literature DB >> 9452054

Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.

T Casals1, M D Ramos, J Giménez, M Nadal, V Nunes, X Estivill.   

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Year:  1998        PMID： 9452054     DOI： 10.1002/humu.1380110133

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


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  2 in total

Review 1.  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

2.  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
  2 in total

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