Functional characterization of the novel intronic nucleotide change c.288+9C&gt;T within the BCKDHA gene: Understanding a variant presentation of maple syrup urine disease

Paula Fernandez Guerra; Rosa Navarrete; Kara Weisiger; Lourdes R Desviat; Seymour Packman; Magdalena Ugarte; Pilar Rodriguez-Pombo

doi:10.1007/s10545-010-9077-7

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

Paula Fernandez Guerra
, Rosa Navarrete
, Kara Weisiger
, Lourdes R Desviat
, Seymour Packman
, Magdalena Ugarte
, Pilar Rodriguez-Pombo

Autonoma University
University of California

Research output: Contribution to journal › Journal article › Research › peer-review

Original language	English
Journal	Journal of Inherited Metabolic Disease
ISSN	0141-8955
DOIs	https://doi.org/10.1007/s10545-010-9077-7
Publication status	Published - 2010
Externally published	Yes

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10.1007/s10545-010-9077-7

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Cite this

Fernandez Guerra, P., Navarrete, R., Weisiger, K., Desviat, L. R., Packman, S., Ugarte, M., & Rodriguez-Pombo, P. (2010). 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. Journal of Inherited Metabolic Disease. https://doi.org/10.1007/s10545-010-9077-7

@article{cae4c9f3cf674497a4e4ea608b54c6e9,

title = "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",

author = "\{Fernandez Guerra\}, Paula and Rosa Navarrete and Kara Weisiger and Desviat, \{Lourdes R\} and Seymour Packman and Magdalena Ugarte and Pilar Rodriguez-Pombo",

year = "2010",

doi = "10.1007/s10545-010-9077-7",

language = "English",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer",

}

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. / Fernandez Guerra, Paula; Navarrete, Rosa; Weisiger, Kara et al.
In: Journal of Inherited Metabolic Disease, 2010.

Research output: Contribution to journal › Journal article › Research › peer-review

TY - JOUR

T1 - 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

AU - Fernandez Guerra, Paula

AU - Navarrete, Rosa

AU - Weisiger, Kara

AU - Desviat, Lourdes R

AU - Packman, Seymour

AU - Ugarte, Magdalena

AU - Rodriguez-Pombo, Pilar

PY - 2010

Y1 - 2010

U2 - 10.1007/s10545-010-9077-7

DO - 10.1007/s10545-010-9077-7

M3 - Journal article

SN - 0141-8955

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

ER -

Functional characterization of the novel intronic nucleotide change c.288+9C&gt;T within the BCKDHA gene: Understanding a variant presentation of maple syrup urine disease

Documents & Links

SDU Link

Cite this

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