Mutations in the Δ 1 -pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia

By Geraghty M.T.  

Human Molecular Genetics, Vol. 7, Iss. 9, 1998-09 ,pp. : 1411-1415

Oxford University Press

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Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and RothmundThomson syndrome

By Walne Amanda J.   Vulliamy Tom   Beswick Richard   Kirwan Michael   Dokal Inderjeet  

Human Molecular Genetics, Vol. 19, Iss. 22, 2010-11 ,pp. : 4453-4461

Oxford University Press

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Mutations in the Protoporphyrinogen Oxidase Gene in Patients with Variegate Porphyria

By Deybach Jean-Charles   Puy Hervé   Robréau Anne-Marie   Lamoril Jérôme   Da Silva Vasco   Grandchamp Bernard   Nordmann Yves  

Human Molecular Genetics, Vol. 5, Iss. 3, 1996-01 ,pp. : 407-410

Oxford University Press

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Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia

By Bar-joseph Ifat   Pras Elon   Reznik-Wolf Haike   Marek-Yagel Dina   Abu-Horvitz Almogit   Dushnitzky Maya   Goldstein Nurit   Rienstein Shlomit   Dekel Michal   Pode-Shakked Ben   Zlotnik Joseph   Benarrosh Anelia   Gillery Philippe   Hofliger Niklaus   Auray-Blais Christiane   Garnotel Roselyne   Anikster Yair  

Human Genetics, Vol. 131, Iss. 11, 2012-11 ,pp. : 1805-1810

Springer Publishing Company

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CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients

By Benson K.F.  

Human Molecular Genetics, Vol. 7, Iss. 11, 1998-11 ,pp. : 1779-1786

Oxford University Press

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