Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s41431-017-0001-6.pdf
Reference30 articles.
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2. Kurata H, Terashima H, Nakashima M, Okazaki T, Matsumura W, Ohno K, et al. Characterization of SPATA5-related encephalopathy in early childhood. Clin Genet. 2016;90:437–44.
3. Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, et al. SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss. Orphanet J Rare Dis. 2016;11:130.
4. Liu Y, Black J, Kisiel N, Kulesz-Martin MF. SPAF, a new AAA-protein specific to early spermatogenesis and malignant conversion. Oncogene. 2000;19:1579–88.
5. Pajusalu S, Reimand T, Ounap K. Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome. Am J Med Genet A. 2015;167A:1913–5.
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