A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome

British Journal of Dermatology

Volumn 155, Issue 5, 2006, Pages 1067-1069

  Bessis, D ^a   Giraud, S ^b,c   Richard, S ^c,d  

^a HÔPITAL SAINT ELOI   (France)

^b EDOUARD HERRIOT HOSPITAL   (France)

^c UNIVERSITÉ PARIS SACLAY   (France)

^d BICÊTRE HOSPITAL   (France)

Author keywords

Birt Hogg Dub syndrome; Fibrofolliculomas; Germline mutation; Initiator codon

Indexed keywords

ESTRONE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BHD GENE; BIRT HOGG DUBE SYNDROME; CHROMOSOME 17P; COLON POLYP; COLORECTAL CANCER; COMPUTER ASSISTED TOMOGRAPHY; FACE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENODERMATOSIS; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; GERMLINE MUTATION; HUMAN; HUMAN TISSUE; KIDNEY CARCINOMA; LUNG CYST; NECK; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPONTANEOUS PNEUMOTHORAX; START CODON; TRUNK;

ADULT; CHILD; DNA MUTATIONAL ANALYSIS; FACIAL NEOPLASMS; FEMALE; FIBROMA; GERM-LINE MUTATION; HUMANS; MALE; NEOPLASTIC SYNDROMES, HEREDITARY; PEDIGREE; PROTEINS; PROTO-ONCOGENE PROTEINS; SKIN DISEASES, GENETIC; SKIN NEOPLASMS; TUMOR SUPPRESSOR PROTEINS;

EID: 33749819896     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07449.x     Document Type: Article

References (10)

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