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Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: Correlation of genotype to phenotype
by
Kadakol, Ajit
,
Ghosh, Siddhartha S.
,
Sappal, Baljit S.
,
Sharma, Girish
,
Chowdhury, Jayanta Roy
,
Chowdhury, Namita Roy
Published in
Human mutation
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Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neon...
by
KADAKOL, AJIT
,
SAPPAL, BALJIT S
,
GHOSH, SIDDHARTHA S
,
LOWENHEIM, MARK
,
CHOWDHURY, ABHIJIT
,
CHOWDHURY, SUJIT
,
SANTRA, AMAL
,
ARIAS, IRWIN M
,
CHOWDHURY, JAYANTA ROY
,
CHOWDHURY, NAMITA ROY
Published in
Journal of medical genetics
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A Novel Intronic Mutation Results in the Use of a Cryptic Splice Acceptor Site within the Coding Region of UGT1A1, Causing Crigler-Najjar Syndrome Type 1
by
Sappal, Baljit S.
,
Ghosh, Siddhartha S.
,
Shneider, Benjamin
,
Kadakol, Ajit
,
Chowdhury, Jayanta Roy
,
Chowdhury, Namita Roy
Published in
Molecular genetics and metabolism
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Human Mutation
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Journal Of Medical Genetics
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Molecular Genetics And Metabolism
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Crigler-Najjar Syndrome - Genetics
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Genetics & Heredity
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Glucuronosyltransferase - Genetics
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Humans
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Life Sciences & Biomedicine
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Crigler-Najjar Syndrome
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Gilbert Disease - Genetics
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Infant
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Infant, Newborn
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Mutation
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Adult
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Base Sequence
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Bilirubin
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Bilirubin - Metabolism
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Bilirubin Udp-Glucuronosyltransferase
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Bilirubin Udp‐Glucuronosyltransferase
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Biological And Medical Sciences
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Blotting, Western
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