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Biochemical and Biophysical Research Communications, Vol. 264, Iss. 2, 1999-10 ,pp. : 483-487

Elsevier

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Glycogen Storage Disease Type II: Identification of Four Novel Missense Mutations (D645N, G648S, R672W, R672Q) and Two Insertions/Deletions in the Acid alpha-Glucosidase Locus of Patients of Differing Phenotype

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Identification of Novel Mutations in the Human HPRT Gene

By Nguyen Khue Vu   Nyhan William L.  

Nucleosides, Nucleotides & Nucleic Acids, Vol. 32, Iss. 3, 2013-01 ,pp. : 155-160

Taylor & Francis Ltd

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MODY Associated with Two Novel Hepatocyte Nuclear Factor-1α Loss-of-Function Mutations (P112L and Q466X)

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Recurrent Missense (R197C) and Nonsense (Y89X) Mutations in the XLRS1 Gene in Families with X-Linked Retinoschisis

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