A founder noncoding GALT variant interfering with splicing causes galactosemia-Reference-Cited by-同舟云学术

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A founder noncoding GALT variant interfering with splicing causes galactosemia

Published:2020-08-21 Issue:6 Volume:43 Page:1199-1204
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Latchman Kumarie¹,Brown Jeanette²,Sineni Claire J.²,Ragin‐Dames Lorrien¹,Guo Shengru²,Huang Jingyu¹,Thorson Willa¹,Hacker Stephanie¹,Barbouth Deborah¹,Tekin Mustafa¹²,Bademci Guney¹²^ORCID

Affiliation:

1. Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine Miami Florida USA

2. John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine Miami Florida USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12293

Reference27 articles.

1. The molecular biology of galactosemia

2. Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead;Pyhtila BM;JIMD Rep,2015

3. The enzymatic expression of heterozygosity in families of children with galactosemia;Donnell GN;Pediatrics,1960

4. A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing;Frontiers in Genetics;2022-01-24

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