The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

Human mutation

Volumn 17, Issue 6, 2001, Pages 520-521

  Vega, Ana ^a   Campos, Berta ^b   Bressac de Paillerets, Brigitte ^c   Bond, Patricia M ^d   Janin, Nicolas ^e   Douglas, Fiona S ^d   Domènech, Montserrat ^b   Baena, Manel ^b   Pericay, Carles ^b   Alonso, Carmen ^b   Carracedo, Angel ^a   Baiget, Montserrat ^b   Diez, Orland ^b  

^a UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^b HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^c INSTITUT GUSTAVE ROUSSY   (France)

^d NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; MESSENGER RNA;

ALTERNATIVE RNA SPLICING; ARTICLE; BREAST TUMOR; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GENETIC TRANSCRIPTION; GENETICS; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; MALE; METABOLISM; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; OVARY TUMOR; PEDIGREE; SPAIN;

AGE OF ONSET; ALTERNATIVE SPLICING; BASE SEQUENCE; BRCA1 PROTEIN; BREAST NEOPLASMS; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GENOTYPE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; OVARIAN NEOPLASMS; PEDIGREE; RNA, MESSENGER; SPAIN; TRANSCRIPTION, GENETIC;

EID: 17644444777     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1136     Document Type: Article

References (0)