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What is the meaning of 17p11. Phrases containing 17p11
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What is the meaning of 17p11. Phrases containing 17p11
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17p11
syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication
a deletion of genetic material from a specific region of chromosome 17 (17p11.2). Although this region contains multiple genes, recently researchers discovered
location on chromosome 17: FLCN: folliculin (17p11.2) MYO15A: myosin XVA (17p11.2) RAI1: retinoic acid induced 1 (17p11.2) PMP22: peripheral myelin protein 22
"Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2)". Pediatric Neurology. 34 (5): 337–350. doi:10.1016/j.pediatrneurol.2005
Type OMIM Gene Locus IGAD1 137100 Unknown; MSH5 suggested 6p21 IGAD2 609529 TNFRSF13B 17p11
Charcot–Marie–Tooth syndrome IA associated with a duplication on chromosome 17p11.2". Journal of the Neurological Sciences. 154 (1): 72–75. doi:10
chromosome 17p11.2. DHRS7B encodes a protein that is predicted to function in steroid hormone regulation. A deletion in the chromosomal region 17p11.2 has
syndrome is caused by mutations in the FLCN gene (located at chromosome 17p11.2), which encodes a protein named folliculin. FLCN mutations and lung lesions
autosomal dominant deletion of PMP22 (peripheral myelin protein 22 at locus 17p11.2). PMP22 displays haploinsufficiency, such that the normal copy of the
Smith–Lemli–Opitz syndrome DHCR7 recessive 1:20,000-60,000 Smith–Magenis syndrome 17p11.2 dominant 1:15,000-25,000 Snyder–Robinson syndrome Xp21.3-p22.12 recessive
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17p11
Astrological/horoscope meaning of 17p11. 17p11 means: undefined
17p11
17p11
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17p11
1: Meaning of 1 in the acronym 17p11 means: undefined
7: Meaning of 7 in the acronym 17p11 means: undefined
P: Meaning of P in the acronym 17p11 means: P has a heavy top standing on just a point to show it's strenght. It means strong, the ability tp perceive weakness and opportunities easily and clear-sightedness. By standing on its own, it shows self-centeredness, a thriving attitude and rigorousness. P also shows disconnection, strong will to go even alone and impartiality.
17p11
17p11