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Human Mutation|October 2, 2004
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutationsAngel L Pey, Belén Pérez, Lourdes R Desviat, et al.
Human Mutation|October 2, 2004
Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC geneStefan Aretz, Siegfried Uhlhaas, Yuli Sun, et al.
Human Mutation|October 2, 2004
Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosisZhenghua Zhang, Zhenmin Niu, Wentao Yuan, et al.
Human Mutation|June 23, 2005
Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohortOlga Roche, Alvaro Blanch, Christiane Duponchel, et al.
Human Mutation|December 8, 2004
HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor geneLajos Kalmár, Tamás Hegedüs, Henriette Farkas, et al.
Human Mutation|December 8, 2004
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populationsPatrick Frosk, Cheryl R Greenberg, Alysa A P Tennese, et al.
Human Mutation|December 8, 2004
A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD)Antoine Disset, Carine Michot, Ann Harris, et al.
Human Mutation|December 8, 2004
Molecular and muscle pathology in a series of caveolinopathy patientsLuigi Fulizio, Anna Chiara Nascimbeni, Marina Fanin, et al.
Human Mutation|September 21, 2005
Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3' untranslated region of the factor VII (FVII) gene: molecular characterization of a patient with severe FVII deficiencyF Peyvandi, I Garagiola, R Palla, et al.
Human Mutation|April 21, 2005
Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitaryMarie-Laure Sobrier, Irène Netchine, Claudine Heinrichs, et al.
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