Portal de investigación
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Bogliolo M
- Pujol R
- Aza-Carmona M
- Muñoz-Subirana N
- Rodriguez-Santiago B
- Casado JA
- Rio P
- Bauser C
- Reina-Castillón J
- Lopez-Sanchez M
- Gonzalez-Quereda L
- Gallano P
- Catalá A
- Ruiz-Llobet A
- Badell I
- Diaz-Heredia C
- Hladun R
- Bergua Burgues JM
- Bañez F
- Arrizabalaga B
- López Almaraz R
- Lopez M
- Figuera Á
- Molinés A
- Pérez de Soto I
- Hernando I
- Muñoz JA
- Del Rosario Marin M
- Balmaña J
- Stjepanovic N
- Carrasco E
- Cuesta I
- Cosuelo JM
- Regueiro A
- Moraleda Jimenez J
- Galera-Miñarro AM
- Rosiñol L
- Carrió A
- Beléndez-Bieler C
- Escudero Soto A
- Cela E
- de la Mata G
- Fernández-Delgado R
- Garcia-Pardos MC
- Sáez-Villaverde R
- Barragaño M
- Portugal R
- Lendinez F
- Hernadez I
- Vagace JM
- Tapia M
- Nieto J
- Garcia M
- Gonzalez M
- Vicho C
- Galvez E
- Valiente A
- Antelo ML
- Ancliff P
- Garcia F
- Dopazo J
- Sevilla J
- Paprotka T
- Pérez-Jurado LA
- Bueren J
- Surralles J
Grupos
Abstract
Patients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit chromosome fragility, bone marrow failure, malformations and cancer susceptibility. FA molecular diagnosis is challenging since FA is caused by point mutations and large deletions in 22 genes following three heritability patterns. To optimise FA patients' characterisation, we developed a simplified but effective methodology based on whole exome sequencing (WES) and functional studies.
Datos de la publicación
- ISSN/ISSNe:
- 0022-2593, 1468-6244
- Tipo:
- Article
- Páginas:
- 258-268
- PubMed:
- 31586946
- Factor de Impacto:
- 2,439 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
JOURNAL OF MEDICAL GENETICS BMJ PUBLISHING GROUP
Citas Recibidas en Web of Science: 25
Documentos
- No hay documentos
Filiaciones
Keywords
- clinical genetics, genetics, haematology (incl blood transfusion)
Cita
Bogliolo M,Pujol R,Aza M,Muñoz N,Rodriguez B,Casado JA,Rio P,Bauser C,Reina J,Lopez M,Gonzalez L,Gallano P,Catalá A,Ruiz A,Badell I,Diaz C,Hladun R,SENENT L,ARGILES B,Bergua JM,Bañez F,Arrizabalaga B,López R,Lopez M,Figuera Á,Molinés A,Pérez de Soto I,Hernando I,Muñoz JA,Del Rosario M,Balmaña J,Stjepanovic N,Carrasco E,Cuesta I,Cosuelo JM,Regueiro A,Moraleda J,Galera AM,Rosiñol L,Carrió A,Beléndez C,Escudero A,Cela E,de la Mata G,Fernández R,Garcia MC,Sáez R,Barragaño M,Portugal R,Lendinez F,Hernadez I,Vagace JM,Tapia M,Nieto J,Garcia M,Gonzalez M,Vicho C,Galvez E,Valiente A,Antelo ML,Ancliff P,Garcia F,Dopazo J,Sevilla J,Paprotka T,Pérez LA,Bueren J,Surralles J. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J. Med. Genet. 2020. 57. (4):p. 258-268. IF:6,318. (1).