Mutations of CTNS causing intermediate cystinosis

Jess Thoene; Rosemary Lemons; Yair Anikster; Jodi Mullet; Karen Paelicke; Cynthia Lucero; William Gahl; Jerry Schneider; S. G. Shu; H. Thomas Campbell

doi:10.1006/mgme.1999.2876

Mutations of CTNS causing intermediate cystinosis

Jess Thoene^*, Rosemary Lemons, Yair Anikster, Jodi Mullet, Karen Paelicke, Cynthia Lucero, William Gahl, Jerry Schneider, S. G. Shu, H. Thomas Campbell

^*Corresponding author for this work

Clinical Departments

Research output: Contribution to journal › Article › peer-review

Abstract

Six patients with the intermediate form of cystinosis are described. Two have new mutations not previously described. The disease occurs due either to the combination of one mild mutation and one which is known to cause nephropathic cystinosis or to homozygosity for a predicted mild mutation. Partial phenotypic correction of cystinotic fibroblasts by transfection with normal cDNA or a cDNA derived from a mutation causing intermediate cystinosis is demonstrated.

Original language	English
Pages (from-to)	283-293
Number of pages	11
Journal	Molecular Genetics and Metabolism
Volume	67
Issue number	4
DOIs	https://doi.org/10.1006/mgme.1999.2876
State	Published - Aug 1999

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10.1006/mgme.1999.2876

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abstract = "Six patients with the intermediate form of cystinosis are described. Two have new mutations not previously described. The disease occurs due either to the combination of one mild mutation and one which is known to cause nephropathic cystinosis or to homozygosity for a predicted mild mutation. Partial phenotypic correction of cystinotic fibroblasts by transfection with normal cDNA or a cDNA derived from a mutation causing intermediate cystinosis is demonstrated.",

author = "Jess Thoene and Rosemary Lemons and Yair Anikster and Jodi Mullet and Karen Paelicke and Cynthia Lucero and William Gahl and Jerry Schneider and Shu, {S. G.} and Campbell, {H. Thomas}",

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AU - Thoene, Jess

AU - Lemons, Rosemary

AU - Anikster, Yair

AU - Mullet, Jodi

AU - Paelicke, Karen

AU - Lucero, Cynthia

AU - Gahl, William

AU - Schneider, Jerry

AU - Shu, S. G.

AU - Campbell, H. Thomas

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Mutations of CTNS causing intermediate cystinosis

Abstract

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