TY  - JOUR
AU  - Marcos, Ana T
AU  - Amorós, Diego
AU  - Muñoz-Cabello, Beatriz
AU  - Galán, Francisco
AU  - Rivas Infante, Eloy
AU  - Alcaraz-Mas, Luis
AU  - Navarro-Pando, José M
PY  - 2020
DO  - 10.1002/mgg3.1290
UR  - http://hdl.handle.net/10668/15582
T2  - Molecular genetics & genomic medicine
AB  - αB-crystallin is a promiscuous protein involved in numerous cell functions. Mutations in CRYAB have been found in patients with different pathological phenotypes that are not properly understood. Patients can present different diseases like cataracts,...
LA  - en
KW  - CRYAB
KW  - HspB5
KW  - cardiomyopathy
KW  - cataracts
KW  - crystallinopathy
KW  - myopathy
KW  - αB-crystallin
KW  - Cataract
KW  - Child, Preschool
KW  - Genes, Dominant
KW  - Humans
KW  - Male
KW  - Muscle, Skeletal
KW  - Mutation
KW  - Myotonia Congenita
KW  - Phenotype
KW  - Syndrome
KW  - Twins
KW  - alpha-Crystallin B Chain
TI  - A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
TY  - research article
VL  - 8
ER  -