Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications

Human Mutation

Volumn 17, Issue 5, 2001, Pages 412-422

  Alonso, Javier ^a,b,c   Garca Miguel, Purificacin ^a,e   Abelairas, Jos ^a,b   Mendiola, Marta ^a,d,e   Sarret, Enric ^a,b   Teresa Vendrell, M ^a,b   Navajas, Aurora ^a,b   Pestaa, Angel ^a,b  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b HOSPITAL INFANTIL LA PAZ   (Spain)

^c HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

^d HOSPITAL DE CRUCES   (Spain)

^e INSTITUTO DE INVESTIGACIONES BIOMÉDICAS ALBERTO SOLS   (Spain)

Author keywords

Germline mutation; Methylation; Mismatch repair; MMR; Phenotype; Polymorphisms; RB1; Retinoblastoma; Spanish; Spectrum

Indexed keywords

RETINOBLASTOMA PROTEIN;

ARTICLE; BASE MISPAIRING; CLINICAL ARTICLE; DNA METHYLATION; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC COUNSELING; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINOBLASTOMA; SPAIN;

AGE OF ONSET; ALTERNATIVE SPLICING; BASE SEQUENCE; CHILD, PRESCHOOL; CODON, NONSENSE; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; DNA REPAIR; EXONS; FEMALE; FRAMESHIFT MUTATION; GENETIC SCREENING; GENOTYPE; GERM-LINE MUTATION; HUMANS; INFANT; INTRONS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; PROMOTER REGIONS (GENETICS); RETINOBLASTOMA; RNA SPLICE SITES; RNA, MESSENGER; SPAIN;

EID: 0035036246     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1117     Document Type: Article

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