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Human Mutation|August 10, 2019
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disordersHanbin Choi, Jens P Andersen, Robert S Molday
Human Mutation|March 31, 2019
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42Muhammad Zakaria, Ambrin Fatima, Joakim Klar, et al.
Human Mutation|March 31, 2019
p.Ser891Ala RET gene mutations in medullary thyroid cancer: Phenotypical and genealogical characterization of 28 apparently unrelated kindreds and founder effect uncovering in Northern ItalyMara Giacché, Alessandra Panarotto, Maria Chiara Tacchetti, et al.
Human Mutation|April 2, 2019
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathiesChristoph Bachmann, Faiza Noreen, Nicol C Voermans, et al.
Human Mutation|September 4, 2019
Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndromeYi-Ling Qiu, Teng Liu, Kuerbanjiang Abuduxikuer, et al.
Human Mutation|August 25, 2019
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinomaLiying Zhang, Michael F Walsh, Sowmya Jairam, et al.
Human Mutation|September 14, 2019
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypesDenise Ponard, Christine Gaboriaud, Delphine Charignon, et al.
Human Mutation|August 3, 2019
Congenital disorders of glycosylation and the challenge of rare diseasesBrian M Gilfix
Human Mutation|February 5, 1998
Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph diseaseG Cancel, I Gourfinkel-An, G Stevanin, et al.
Human Mutation|February 5, 1998
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiencyT T Liu, K J Hsiao, S F Lu, et al.
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