Branchio-oculo-facial syndrome (TFAP2A)

06 Oct 15

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Borjeson-Forssman-Lehmann syndrome (PHF6)

06 Oct 15

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Bloom syndrome (BLM)

06 Oct 15

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BIO-ITS (Chlamydia, Mycoplasma, Neisseria, Ureoplasma, Trichomonas, Herpes)

06 Oct 15

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Beals syndrome(FBN2)

06 Oct 15

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BCR/ABL (Philadelphia chromosome)

06 Oct 15

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Bannayan-Riley-Ruvalcaba syndrome (PTEN)

06 Oct 15

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Intestinal viruses and bacteria-PCR

06 Oct 15

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Azoospermia (SYCP3)

06 Oct 15

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Autism/intellectual disability/seizures (ARX, SCN1A, CDKL5/STK9)

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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