- is an
autosomal recessive abnormality of the UTP4 gene,
which codes for
cirhin.
Neonatal jaundice advances over time to
biliary cirrhosis with
severe liver...
-
which codes for
cirhin, a
nucleolar protein. NAIC is a ribosomopathy. An R565W
mutation of UTP4
leads to
partial impairment of
cirhin interaction with...
- UTP4 is a gene that
encodes the
protein Cirhin, the gene is also
known as CIRH1A and NAIC. This
protein contains a WD40
repeat and is
localized to the...
-
Michaud J, Mitc**** G, et al. (2003). "A
missense mutation (R565W) in
cirhin (FLJ14728) in
North American Indian childhood cirrhosis". Am. J. Hum. Genet...
- Rasquin-Weber A,
Hudson TJ,
Richter A (2003). "A
missense mutation (R565W) in
cirhin (FLJ14728) in
North American Indian childhood cirrhosis". Am. J. Hum. Genet...
- Rasquin-Weber A,
Hudson TJ,
Richter A (Dec 2002). "A
missense mutation (R565W) in
cirhin (FLJ14728) in
North American Indian childhood cirrhosis".
American Journal...
-
Michaud J, Mitc**** G, et al. (2003). "A
missense mutation (R565W) in
cirhin (FLJ14728) in
North American Indian childhood cirrhosis". Am. J. Hum. Genet...
-
Hudson TJ,
Richter A (December 2002). "A
missense mutation (R565W) in
cirhin (FLJ14728) in
North American Indian childhood cirrhosis".
American Journal...
- Rasquin-Weber A,
Hudson TJ,
Richter A (Dec 2002). "A
missense mutation (R565W) in
cirhin (FLJ14728) in
North American Indian childhood cirrhosis".
American Journal...
-
Michaud J, Mitc**** G, et al. (2003). "A
missense mutation (R565W) in
cirhin (FLJ14728) in
North American Indian childhood cirrhosis". Am. J. Hum. Genet...
