ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg-Reference-Cited by-同舟云学术

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ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg

Published:2002-09-15 Issue:19 Volume:11 Page:2331-2339
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:
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Author:

Grubenmann C. E.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/11/19/2331/6947591/ddf229.pdf

Cited by 74 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. Expanded prenatal phenotype of ALG12‐associated congenital disorder of glycosylation including bilateral multicystic kidneys;American Journal of Medical Genetics Part A;2024-05-08

2. Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome;Human Genetics and Genomics Advances;2023-01

3. Genetic analysis of human RNA binding motif protein 48 (RBM48) reveals an essential role in U12-type intron splicing;Genetics;2022-08-30

4. Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome;2022-07-10

5. A novel fission yeast platform to model N-glycosylation and the bases of congenital disorders of glycosylation type I;Journal of Cell Science;2022-02-03

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