1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
about
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patientThe PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.Radiation leukemia virus common integration at the Kis2 locus: simultaneous overexpression of a novel noncoding RNA and of the proximal Phf6 geneT-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females.Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia.A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.The Human Obesity Gene Map: The 2004 Update
P2860
Q24655837-62607725-3047-4499-93A9-7B681E3DE28AQ30387303-5146EF74-5B88-4841-8A40-D53C46E4D9A6Q31814788-FF6E3CF6-94E5-4303-B0F7-927062EC6E3EQ33930366-3C89F022-273A-4626-BC88-38B6ECB3DCCEQ34102788-F9171A92-22A5-444F-852C-7EAD9C05732EQ34570066-C5891BB6-250C-4C77-83B4-ACB3D1AD0A61Q35546508-EA841B27-DD46-49AE-BC9E-C068A6C75932Q38955475-7D33699C-36C2-44A6-B9B1-3EAD7B9354EFQ39785277-627F24E7-F3CC-47F2-A24E-1290D699344BQ41296537-B6C7F58D-1AA8-45E7-81E0-C3CB474CF8A3Q50687726-75ABF99F-9A1E-4FCA-AD6D-41217ACB5A45Q57316399-C288E423-4773-4C18-A3C4-2136614F4401
P2860
1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
1024C> T (R342X) is a recurren ...... ssman-Lehmann syndrome family.
@en
1024C> T
@nl
type
label
1024C> T (R342X) is a recurren ...... ssman-Lehmann syndrome family.
@en
1024C> T
@nl
prefLabel
1024C> T (R342X) is a recurren ...... ssman-Lehmann syndrome family.
@en
1024C> T
@nl
P2093
P2860
P50
P356
P1476
1024C> T (R342X) is a recurren ...... ssman-Lehmann syndrome family.
@en
P2093
Gillian Turner
Gunilla Malm
Göran Solders
John Nelson
Marie-Louise Bondeson
Mats Börjeson
Michael Partington
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201228
P577
2004-10-01T00:00:00Z