- beta-induced, 68kDa, also
known as
TGFBI (initially
called BIGH3, BIG-H3), is a
protein which in
humans is
encoded by the
TGFBI gene,
locus 5q31. This gene encodes...
-
inheritance and
point mutations in the
transforming growth factor, beta-induced (
TGFBI) gene
encoding keratoepithelin have been identified, but
according to the...
- in the CHST6, KRT3, KRT12, PIP5K3, SLC4A11, TACSTD2,
TGFBI, and UBIAD1 genes.
Mutations in
TGFBI which encodes transforming growth factor beta induced...
- [citation needed]
Granular corneal dystrophy is
caused by a
mutation in the
TGFBI gene,
located on
chromosome 5q31. The
disorder is
inherited in an autosomal...
-
Corneodesmosin Hypotrichosis simplex of the
scalp ACor C-terminal
fragments of
TGFBI/Keratoepithelin
Lattice corneal dystrophy type I,
Lattice corneal dystrophy...
- types: type I: with no
systemic ****ociation. It is
caused by
mutations in
TGFBI gene
encoding keratoepithelin,
which maps to
chromosome 5q. type II or Finnish...
- and type 3. Type 1 is also
known as Biber-Haab-Dimmer
corneal dystrophy,
TGFBI type
Lattice Dystrophy, or
classic Lattice Dystrophy. LCD type II is not...
- O43294 16601 TGFB2 HGNC:11768 P61812 16602 TGFB3 HGNC:11769 P10600 16603
TGFBI HGNC:11771 Q15582 16604 TGFBR1 HGNC:11772 P36897 16605 TGFBR2 HGNC:11773...
- Tubulin-specific
chaperone A TCOF1:
Treacher Collins-Franceschetti
syndrome 1
TGFBI:
keratoepithelin THG1L:
Probable tRNA(His)
guanylyltransferase TICAM2: TIR...
-
cornea is not present. The
disease has been ****ociated with
mutations in
TGFBI gene on
chromosome 5q
which encodes for keratoepithelin. The inheritance...
