Waardenburg syndrome, types 1-4 (PAX3, MITF, SOX10, EDN3, EDNRB)

06 Oct 15

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Von-Hippel-Lindau disease (VHL)

06 Oct 15

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Respiratory syncytial virus

06 Oct 15

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Respiratory syncytial virus (molecular)

06 Oct 15

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Human papillomavirus 35 genotypes

06 Oct 15

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Human papillomavirus

06 Oct 15

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Aortic valve disease (NOTCH1)

06 Oct 15

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Thrombophilia panel

06 Oct 15

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CONNECT 1 panel/22 genes (Connective tissue disorders DNA sequencing chip)

06 Oct 15

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Newborn screening panel more screening for severe combined imnmunodeficiency (SCID)

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.

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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.

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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.

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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

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