Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis-Reference-Cited by-同舟云学术

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Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis

Published:2020-07 Issue:1 Volume:107 Page:158-163
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Boyden Lynn M.,Zhou Jing,Hu Ronghua,Zaki Theodore,Loring Erin,Scott Jared,Traupe Heiko,Paller Amy S.,Lifton Richard P.,Choate Keith A.

Funder

Foundation for Ichthyosis and Related Skin Types

National Institutes of Health

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Autosomal dominant lamellar ichthyosis: a new skin disorder;Traupe;Clin. Genet.,1984

3. Autosomal-dominant lamellar ichthyosis: ultrastructural characteristics of a new type of congenital ichthyosis;Kolde;Arch. Dermatol. Res.,1985

4. Identification and characterization of a novel retroviral-like aspartic protease specifically expressed in human epidermis;Bernard;J. Invest. Dermatol.,2005

5. A novel aspartic proteinase-like gene expressed in stratified epithelia and squamous cell carcinoma of the skin;Rhiemeier;Am. J. Pathol.,2006

Cited by 17 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. Evolution of Virus-like Features and Intrinsically Disordered Regions in Retrotransposon-derived Mammalian Genes;Molecular Biology and Evolution;2024-08

2. Autosomal Dominant Lamellar Ichthyosis Keeps Surprising Us;Journal of Investigative Dermatology;2024-07

3. Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1;Journal of Investigative Dermatology;2024-04

4. Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis;Animal Genetics;2024-03-28

5. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19

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