Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the patched protein, and no genotype- phenotype correlations are evident

American Journal of Human Genetics

Volumn 60, Issue 1, 1997, Pages 21-26

  Wicking, Carol ^a   Shanley, Susan ^b   Smyth, Ian ^a   Gillies, Susan ^a   Negus, Kylie ^a   Graham, Scott ^a   Suthers, Graeme ^c   Haites, Neva ^d   Edwards, Matt ^e   Wainwright, Brandon ^a   Chenevix Trench, Georgia ^b  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d UNIVERSITY OF ABERDEEN   (United Kingdom)

^e Hunter Genetics   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

ARTICLE; BASAL CELL NEVUS SYNDROME; CHROMOSOME 9Q; EXON; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE; GERM LINE; HUMAN; MAJOR CLINICAL STUDY; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

BASAL CELL NEVUS SYNDROME; EXONS; FEMALE; GENOTYPE; GERM-LINE MUTATION; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MOSAICISM; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CELL SURFACE; TRANSCRIPTION, GENETIC;

EID: 12844276949     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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