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1984
2024

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1984 1
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PubMed (OMIM) for id: 151516

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Page 1
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA. Boyden LM, et al. Am J Hum Genet. 2020 Jul 2;107(1):158-163. doi: 10.1016/j.ajhg.2020.05.013. Epub 2020 Jun 8. Am J Hum Genet. 2020. PMID: 32516568 Free PMC article.
A de novo variant in the ASPRV1 gene in a dog with ichthyosis.
Bauer A, Waluk DP, Galichet A, Timm K, Jagannathan V, Sayar BS, Wiener DJ, Dietschi E, Müller EJ, Roosje P, Welle MM, Leeb T. Bauer A, et al. PLoS Genet. 2017 Mar 1;13(3):e1006651. doi: 10.1371/journal.pgen.1006651. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28249031 Free PMC article.
Autosomal dominant lamellar ichthyosis.
Toribio J, Fernández Redondo V, Peteiro C, Zulaica A, Fabeiro JM. Toribio J, et al. Clin Genet. 1986 Aug;30(2):122-6. doi: 10.1111/j.1399-0004.1986.tb00580.x. Clin Genet. 1986. PMID: 3757302
[Collodion baby: 32 new case reports].
Larrègue M, Ottavy N, Bressieux JM, Lorette J. Larrègue M, et al. Ann Dermatol Venereol. 1986;113(9):773-85. Ann Dermatol Venereol. 1986. PMID: 3548541 Review. French.