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Human Mutation|June 30, 2020
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation abilityGodelieve Morel, Céline Duhamel, Simon Boussion, et al.
Human Mutation|July 6, 2020
Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuriaInsun Park, Helena Hůlková, Jakub Krijt, et al.
Human Mutation|April 14, 2015
A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and ArthrogryposisKyota Aoyagi, Elsa Rossignol, Fadi F Hamdan, et al.
Human Mutation|April 13, 2021
CNGB1-related rod-cone dystrophy: A mutation review and updateMarco Nassisi, Vasily M Smirnov, Cyntia Solis Hernandez, et al.
Human Mutation|July 5, 2001
Mutations of the human polycystic kidney disease 2 (PKD2) geneC C Deltas
Human Mutation|July 5, 2001
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian familiesM L Mostacciuolo, E Righetti, M Zortea, et al.
Human Mutation|July 5, 2001
Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchangeL Dvoráková, G Storkánová, G Unterrainer, et al.
Human Mutation|July 5, 2001
Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect?S Ennis, A Murray, N E Morton
Human Mutation|July 5, 2001
Molecular analysis of Bruton's tyrosine kinase gene in SpainM C Rodríguez, E L Granados, A F Cerdán, et al.
Human Mutation|October 23, 2001
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiencyY Indo, S Mardy, Y Miura, et al.
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