Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa

By De Luca A.   Torrente I.   Mangino M.   Danesi R.   Dallapiccola B.   Novelli G.  

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 432, Iss. 3, 2001-01 ,pp. : 79-82

Elsevier

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Molecular Characterization of X-Linked Adrenoleukodystrophy in a Tunisian Family: Identification of a Novel Missense Mutation in the ABCD1 Gene

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Neurodegenerative Diseases, Vol. 12, Iss. 4, 2013-05 ,pp. : 207-211

Karger

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Two different PAX3 gene mutations causing Waardenburg syndrome type I

By Wildhardt G.   Winterpacht A.   Hilbert K.   Menger H.   Zabel B.  

Molecular and Cellular Probes, Vol. 10, Iss. 3, 1996-03 ,pp. : 229-231

Academic Press

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Missense mutations at the FKBP12-rapamycin-binding site of TOR1

By Freeman K.   Livi G.P.  

Gene, Vol. 172, Iss. 1, 1996-06 ,pp. : 143-147

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Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome

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Molecular and Cellular Probes, Vol. 16, Iss. 4, 2002-08 ,pp. : 315-318

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