A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome.
about
X linked mental retardation: a clinical guide.The lavender plumage colour in Japanese quail is associated with a complex mutation in the region of MLPH that is related to differences in growth, feed consumption and body temperatureDMD and IL1RAPL1: two large adjacent genes localized within a common fragile site (FRAXC) have reduced expression in cultured brain tumors.Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart.Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.
P2860
A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome.
description
2003 nî lūn-bûn
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2003年の論文
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2003年学术文章
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2003年学术文章
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name
A complex deletion-inversion-d ...... iguous gene deletion syndrome.
@en
A complex deletion-inversion-d ...... iguous gene deletion syndrome.
@nl
type
label
A complex deletion-inversion-d ...... iguous gene deletion syndrome.
@en
A complex deletion-inversion-d ...... iguous gene deletion syndrome.
@nl
prefLabel
A complex deletion-inversion-d ...... iguous gene deletion syndrome.
@en
A complex deletion-inversion-d ...... iguous gene deletion syndrome.
@nl
P2093
P356
P1476
A complex deletion-inversion-d ...... iguous gene deletion syndrome.
@en
P2093
Nihalani V
Roberts RG
P304
P356
10.1136/JMG.40.2.127
P407
P577
2003-02-01T00:00:00Z