Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
about
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β.Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.
P2860
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Molecular and structural analy ...... a Portuguese Gypsy community.
@en
Molecular and structural analy ...... a Portuguese Gypsy community.
@nl
type
label
Molecular and structural analy ...... a Portuguese Gypsy community.
@en
Molecular and structural analy ...... a Portuguese Gypsy community.
@nl
prefLabel
Molecular and structural analy ...... a Portuguese Gypsy community.
@en
Molecular and structural analy ...... a Portuguese Gypsy community.
@nl
P2093
P50
P1476
Molecular and structural analy ...... a Portuguese Gypsy community.
@en
P2093
Elisa Leão Teles
Esmeralda Rodrigues
Filomena Eusébio
Fátima Furtado
Isabel Lança
Laura Vilarinho
Paula Garcia
Raquel Matos
Sílvia Sequeira
P304
P356
10.1016/J.YMGME.2008.02.008
P50
P577
2008-04-02T00:00:00Z