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<i>BHD</i> mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports
Journal of Medical Genetics · 2008 · Vol. 45(6) · pp. 321–331
Jorge R. Toro✉(National Cancer Institute)M-H Wei(Science Applications International Corporation (United States))G.M. Glenn(National Institutes of Health)Michael Weinreich(National Institutes of Health)Ousmane Touré(National Cancer Institute)Cathy D. Vocke(Center for Cancer Research)Maria L. Turner(Center for Cancer Research)Peter L. Choyke(Center for Cancer Research)Maria J. Merino(Center for Cancer Research)P A Pinto(Center for Cancer Research)Shannon M. Steinberg(Center for Cancer Research)Laura S. Schmidt(Science Applications International Corporation (United States))W. Marston Linehan(Center for Cancer Research)
Abstract
BHDS is characterised by a spectrum of mutations, and clinical heterogeneity both among and within families.
Renal cell carcinoma treatmentRenal and related cancersMedical Imaging and Pathology StudiesFolliculinBirt–Hogg–Dubé syndromeGermlineGermline mutationMissense mutationGeneticsMutationNonsense mutationBiologyPneumothorax
MeSH terms
Amino Acid SequenceBase SequenceDNA Mutational AnalysisFamilyFemaleGenotypeHumansMaleMolecular Sequence DataNeoplastic Syndromes, HereditaryPedigreePhenotypeProto-Oncogene ProteinsGerm-Line MutationMutation, Missense
Funding
- U.S. Department of Health and Human Services
- American Academy of Dermatology
- National Institutes of Health
- National Cancer Institute
Citations
512
FWCI
22.25
field-weighted impact
References
53
Percentile
100%
vs. same field & year
Citations per year
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<i>BHD</i> mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports
Journal of Medical Genetics · 2008 · 512 citations
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