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Article

Mutational analysis of the tuberous sclerosis gene<i>TSC2</i> in patients with pulmonary lymphangioleiomyomatosis

1 Jan 2000

Abstract excerpt

Pulmonary lymphangioleiomyomatosis (LAM) is a rare disorder limited almost exclusively to women of reproductive age. LAM affects about 5% of women with tuberous sclerosis complex (TSC). LAM also occurs in women who do not have TSC (sporadic LAM). TSC is a tumour suppressor gene syndrome characterised by seizures, mental retardation, and tumours in the brain, heart, and kidney. Angiomyolipomas, which are benign...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 10633137
DOI: 10.1136/jmg.37.1.55

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