Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0086543 (
cataract
)
29,165
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report a patient with a large intragenic dystrophin deletion of exons 17-51 inclusive associated with congenital
cataract
and mild Becker muscular dystrophy. The
cataract
was similar to the congenital
cataract
described in the mdx mouse. The loss of 68% of the rod domain including hinge 2 and 3 regions did not adversely affect the correct localization of the dystrophin and the association with the
dystrophin-associated glycoprotein
complex. This observation may have implications for minigenes suitable for gene therapy.
...
PMID:Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. 971 43
