Ankylosing spondylitis (inmunologic flow cytometry) (HLA-B27)

06 Oct 15

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Ankylosing spondylitis (HLA-B27). Genotyping by PCR

06 Oct 15

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Infantile spasms (ARX, CDKL5, SCN1A)

06 Oct 15

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Tuberous sclerosis TSC1 y TSC2 (sequencing and MLPA)

06 Oct 15

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Amyotrophic lateral sclerosis (Lou Gehrig disease) (C9ORF72)

06 Oct 15

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Epilepsy, female restricted (PCDH19)

06 Oct 15

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Polycystic kidney disease (PKHD1- autosomal recessive and PKD2- autosomal dominant)

06 Oct 15

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Eye disorder comprehensive sequencing panel (210 genes)

06 Oct 15

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Myeloproliferative disease (JAK2, CALR, MPL)

06 Oct 15

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Maple syrup urine disease 1B (BCKDHB)

06 Oct 15

Comments Off on Maple syrup urine disease 1B (BCKDHB)

Ankylosing spondylitis (inmunologic flow cytometry) (HLA-B27)

Ankylosing spondylitis (HLA-B27). Genotyping by PCR

Infantile spasms (ARX, CDKL5, SCN1A)

Tuberous sclerosis TSC1 y TSC2 (sequencing and MLPA)

Amyotrophic lateral sclerosis (Lou Gehrig disease) (C9ORF72)

Epilepsy, female restricted (PCDH19)

Polycystic kidney disease (PKHD1- autosomal recessive and PKD2- autosomal dominant)

Eye disorder comprehensive sequencing panel (210 genes)

Myeloproliferative disease (JAK2, CALR, MPL)

Maple syrup urine disease 1B (BCKDHB)

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