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Mutational analysis of the tuberous sclerosis geneTSC2 in patients with pulmonary lymphangioleiomyom...

Mutational analysis of the tuberous sclerosis geneTSC2 in patients with pulmonary lymphangioleiomyom...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1781141476

Mutational analysis of the tuberous sclerosis geneTSC2 in patients with pulmonary lymphangioleiomyomatosis

About this item

Full title

Mutational analysis of the tuberous sclerosis geneTSC2 in patients with pulmonary lymphangioleiomyomatosis

Publisher

London: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2000-01, Vol.37 (1), p.55

Language

English

Formats

Publication information

Publisher

London: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

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...

Alternative Titles

Full title

Mutational analysis of the tuberous sclerosis geneTSC2 in patients with pulmonary lymphangioleiomyomatosis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_1781141476

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1781141476

Other Identifiers

ISSN

0022-2593

E-ISSN

1468-6244

DOI

10.1136/jmg.37.1.55

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