The spectrum of RB1 germ-line mutations in hereditary retinoblastoma

American Journal of Human Genetics

Volumn 58, Issue 5, 1996, Pages 940-949

  Lohmann, Dietmar R ^a   Brandt, Birgit ^b   Höpping, Wolfgang ^b   Passarge, Eberhard ^b   Horsthemke, Bernhard ^b  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CODON; EXON; GENE; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINOBLASTOMA; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; GENES, RETINOBLASTOMA; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMERASE CHAIN REACTION; RETINOBLASTOMA;

EID: 0029928102     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Blanquet V, Creau-Goldberg N, de Grouchy J, Turleau C (1991) Molecular detection of constitutional deletions in patients with retinoblastoma. Am J Med Genet 39:355-361
2. Blanquet V, Gross MS, Turleau C, Sénamaud-Beaufort C, Doz F, Besmond C (1994) Three novel germline mutations in exons 8 and 18 of the retinoblastoma gene. Hum Mol Genet 3:1185-1186
3. Blanquet V, Turleau C, Gross MS, Goossens M, Besmond C (1993) Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing. Hum Mol Genet 2:975-979
4. Sakai T, Ohtani N, McGee TL, Robbins PD, Dryja TP (1991a) Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature 353:83-86
5. Sakai T, Toguchida J, Ohtani N, Yandell DW, Rapaport JM, Dryja TP (1991b) Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene. Am J Hum Genet 48:880-888