Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. J Med Genet 2002 Nov;39(11):807-11
Date
11/05/2002Pubmed ID
12414819Pubmed Central ID
PMC1735007DOI
10.1136/jmg.39.11.807Scopus ID
2-s2.0-0036848609 (requires institutional sign-in at Scopus site) 88 CitationsAuthor List
Watanabe Y, Benson DW, Yano S, Akagi T, Yoshino M, Murray JCMESH terms used to index this publication - Major topics in bold
Base SequenceDNA
DNA Mutational Analysis
Electrocardiography
Family Health
Female
Frameshift Mutation
Genotype
Heart Septal Defects, Atrial
Homeobox Protein Nkx-2.5
Homeodomain Proteins
Humans
Male
Mutation, Missense
Pedigree
Phenotype
Sequence Deletion
Situs Inversus
Transcription Factors
Xenopus Proteins
