Associated Papers
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Musumeci A et al.
Biomedicines, 2022
36140376 (PubMed )
Supplement: biomedicines-10-02276-s001.zip › Supplementary_Table_S2.xlsx › 5078-NP1688_Leuko_v1-full
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.
Li Q et al.
Bmc Medical Genomics, 2022
35864542 (PubMed )
Supplement: 12920_2022_1315_MOESM2_ESM.xlsx › RawData
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Zhang C et al.
Genome Biology, 2019
31640808 (PubMed )
Supplement: 13059_2019_1838_MOESM4_ESM.xlsx › Sheet1
Two patients with Canavan disease and structural modeling of a novel mutation.
Zaki OK et al.
Metabolic Brain Disease, 2017
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity.
Di Pietro V et al.
Clinical Biochemistry, 2008
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.
Feigenbaum A et al.
American Journal of Medical Genetics. Part A, 2004
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.
Sistermans EA et al.
European Journal of Human Genetics : Ejhg, 2000
Novel missense mutation (Y231C) in a turkish patient with canavan disease.
Rady PL et al.
American Journal of Medical Genetics, 1999
A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing.
Propheta O et al.
European Journal of Human Genetics : Ejhg, 0
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