Chromosome or cytogenetic analysis

06 Oct 15

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Amino acids analysis in plasma

06 Oct 15

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Allan-Herndon-Dudley syndrome (SLC16A2)

06 Oct 15

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Alpha-thalassemia/intellectual disability syndrome (ATRX)

06 Oct 15

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Acylcarnitine quantitative profile in plasma

06 Oct 15

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Propionic acidemia (PCCA, PCCB)

06 Oct 15

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Multiple miscarriages (SYCP3)

06 Oct 15

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Aarskog Scott syndrome (FGD1)

06 Oct 15

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La mutación G202A, en hijo hemicigoto (arriba) y madre heterocigota (abajo). Esta mutación acompañada de la mutación A376G ó T968C definen la variante africana negativa.

Arriba se muestra el resultado de un niño hemicigoto para la variante africana negativa, caracterizada por las mutaciones A376G y G202A, y abajo de una niña heterocigota para la variante Mediterránea, definida por la mutación C563T.

The G202A mutation, in the hemizygous son (above) and heterozygous mother (below). This
mutation accompanied with the A376G mutation or T968C define the african negative variant.

Above the result of a hemizygous child with the african negative variant , characterized by
mutations A376G and G202A , and below a heterozygous girl with the mediterranean variant, defined by the C563T mutation