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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Tay Sachs disease (HEXA)

Ehlers-Danlos variant with periventricular heterotopia (FLNA)

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

DRPLA- Dentatorubral-pallidoluysian atrophy (ATN1)

Becker muscular dystrophy (DMD)

Duchenne muscular dystrophy (DMD)

Skeletal dysplasia (173 gene panel)

Faciogenital dysplasia (FGD1)

Uniparental disomy (cromosomas 7, 14, 15)

Familial Dysautonomia (IKBKAP, IKAP)

Breaking News

Galeria

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

Breaking News

Galeria

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). Thismutation 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 bymutations A376G and G202A , and below a heterozygous girl with the mediterranean variant, defined by the C563T mutation

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