BHD 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

Volumn 45, Issue 6, 2008, Pages 321-331

  Toro, J R ^a   Wei, M H ^a,b   Glenn, G M ^a   Weinreich, M ^a   Toure, O ^a   Vocke, C ^a   Turner, M ^a   Choyke, P ^a   Merino, M J ^a   Pinto, P A ^a   Steinberg, S M ^a   Schmidt, L S ^a,b   Linehan, W M ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b SAIC FREDERICK INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ESTRONE;

ARTICLE; BIRT HOGG DUBE SYNDROME; DNA SEQUENCE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; KIDNEY TUMOR; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR CLONING; MOLECULAR GENETICS; NONSENSE MUTATION; ONCOCYTOMA; PRIORITY JOURNAL; SKIN DEFECT; STATISTICAL SIGNIFICANCE;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENOTYPE; GERM-LINE MUTATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NEOPLASTIC SYNDROMES, HEREDITARY; PEDIGREE; PHENOTYPE; PROTO-ONCOGENE PROTEINS; TUMOR SUPPRESSOR PROTEINS;

EID: 45249103326     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.054304     Document Type: Article

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