Gene dosage of the spermidine/spermine N1-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)-Reference-Cited by-同舟云学术

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Gene dosage of the spermidine/spermine N1-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

Published:2002-08-01 Issue:3 Volume:111 Page:235-241
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Gimelli Giorgio,Giglio Sabrina,Zuffardi Orsetta,Alhonen Leena,Suppola Suvikki,Cusano Roberto,Lo Nigro Cristiana,Gatti Rosanna,Ravazzolo Roberto,Seri Marco

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-002-0791-6.pdf

Cited by 41 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. Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study;The Journal of Dermatology;2023-12-12

2. Bachmann–Bupp syndrome and treatment;Developmental Medicine & Child Neurology;2023-07-19

3. Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development;Biomolecules;2023-04-19

4. Phenylbutyrate modulates polyamine acetylase and ameliorates Snyder-Robinson syndrome in a Drosophila model and patient cells;JCI Insight;2022-07-08

5. The Association between Spermidine/Spermine N1-Acetyltransferase (SSAT) and Human Malignancies;International Journal of Molecular Sciences;2022-05-25

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