Tay Sachs disease (HEXA)

06 Oct 15

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Ehlers-Danlos variant with periventricular heterotopia (FLNA)

06 Oct 15

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Ehlers-Danlos syndrome types I/II, IV y VII (COL5A1, COL5A2, COL3A1, COL1A1, COL1A2)

06 Oct 15

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DRPLA- Dentatorubral-pallidoluysian atrophy (ATN1)

06 Oct 15

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Becker muscular dystrophy (DMD)

06 Oct 15

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Duchenne muscular dystrophy (DMD)

06 Oct 15

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Skeletal dysplasia (173 gene panel)

06 Oct 15

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Faciogenital dysplasia (FGD1)

06 Oct 15

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Uniparental disomy (cromosomas 7, 14, 15)

06 Oct 15

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Familial Dysautonomia (IKBKAP, IKAP)

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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