Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia.
Eur J Med Genet
; 60(7): 369-373, 2017 Jul.
Article
in En
| MEDLINE
| ID: mdl-28419882
Full text:
1
Collection:
01-internacional
Health context:
2_ODS3
/
6_ODS3_enfermedades_notrasmisibles
Database:
MEDLINE
Main subject:
Nuclear Proteins
/
Carrier Proteins
/
Fanconi Anemia Complementation Group L Protein
/
Fanconi Anemia
Type of study:
Diagnostic_studies
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
Eur J Med Genet
Year:
2017
Document type:
Article