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letter . 1999 Dec;36(12):932–934.
First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis
A GEHRIG
, B WEBER
, B LORENZ
, M ANDRASSI
A GEHRIG
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B WEBER
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B LORENZ
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M ANDRASSI
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PMCID: PMC1734280 PMID: 10636740
See the article "Pitfalls in the diagnosis of mtDNA mutations." in volume 35 on page 963.