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.
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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.
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2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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name
Functional characterization of ...... of maple syrup urine disease.
@en
Functional characterization of ...... of maple syrup urine disease.
@nl
type
label
Functional characterization of ...... of maple syrup urine disease.
@en
Functional characterization of ...... of maple syrup urine disease.
@nl
prefLabel
Functional characterization of ...... of maple syrup urine disease.
@en
Functional characterization of ...... of maple syrup urine disease.
@nl
P2093
P2860
P1476
Functional characterization of ...... n of maple syrup urine disease
@en
P2093
Kara Weisiger
Lourdes R Desviat
Magdalena Ugarte
Pilar Rodríguez-Pombo
Rosa Navarrete
Seymour Packman
P2860
P2888
P304
P356
10.1007/S10545-010-9077-7
P478
33 Suppl 3
P577
2010-04-30T00:00:00Z