Kabuki syndrome (MLL2 y KDM6A)

06 Oct 15

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Janus kinase 2 (V617F mutation) (JAK2)

06 Oct 15

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Lactose intolerance (LCT)

06 Oct 15

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Ovarian insufficiency (NR5A1)

06 Oct 15

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Influenza A and B, PCR

06 Oct 15

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Infertility (SYCP3)

06 Oct 15

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Intellectual disability (dominant, nonsyndromic) (SYNGAP1)

06 Oct 15

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Congenital hypothyroidism (PAX8, FOXE1)

06 Oct 15

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CGH (comparative genome hibridization)

06 Oct 15

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Herpes virus type 8 PCR

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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