Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain.
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P1343
Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.Seminoma in a postmenopausal woman with a Y;15 translocation in peripheral blood lymphocytes and a t(Y;15)/45,X Turner mosaic pattern in skin fibroblasts.Sex determination and the Y chromosome.The genetics of male undermasculinization.Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.Perspectives in Pediatric Pathology, Chapter 5. Gonadal Dysgenesis.Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9.Mutations, malformations and mortality.Regulation of sexual dimorphism in mammals.Sex determination.Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.A collection of XY female cell lines.Laparoscopic surgery and DNA analysis in patients with XY pure gonadal dysgenesis.46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.Human sex reversal due to impaired nuclear localization of SRY. A clinical correlation.
P2860
Q33677428-10D23445-5C96-4EB1-A3DC-A883F9D6E316Q33681421-197B3905-C367-4EF6-92EE-ED3E205CF8BEQ33869529-C85D6A26-7132-430E-8FC0-5BCFC57B10B1Q34534452-0E199F3D-B557-4C5F-8A16-7425707E7F9FQ35162989-D023DFA6-0F3D-415E-8D9A-FE14F7A2587AQ37411435-0B25FE78-387F-462D-893B-C16406283AF2Q38238117-162F2D9B-661C-4887-8C18-D92A95CB5AC7Q38342114-A62E5A56-6DB5-46BF-A015-0FF88135B72DQ40999978-6E9B542F-AE4F-4A20-8730-B770EA4D88A4Q41697429-8C5B8DC5-B54A-4920-97E6-DD2A0F9708E5Q41861529-707E29F1-6183-4F63-991D-A20B486B0D0DQ42601666-B3C317AA-0FC3-495F-9C05-E4F6C962BBF1Q47554011-230E17D4-710A-4918-BA77-BC8AB4F0F652Q51038102-EA8991A2-F01E-4313-B68E-53A1D32A445DQ51364287-468E8309-2094-4329-961A-3D0BFFAEB84CQ54443969-11C53CA0-E1F1-4158-A314-FA250B54621A
P2860
Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
Analysis of the SRY gene in 22 ...... conserved DNA binding domain.
@en
Analysis of the SRY gene in 22 ...... conserved DNA binding domain.
@nl
type
label
Analysis of the SRY gene in 22 ...... conserved DNA binding domain.
@en
Analysis of the SRY gene in 22 ...... conserved DNA binding domain.
@nl
prefLabel
Analysis of the SRY gene in 22 ...... conserved DNA binding domain.
@en
Analysis of the SRY gene in 22 ...... conserved DNA binding domain.
@nl
P2093
P356
P1476
Analysis of the SRY gene in 22 ...... conserved DNA binding domain.
@en
P2093
Chalmers IJ
Ferguson-Smith MA
P304
P356
10.1093/HMG/2.6.785
P4510
P577
1993-06-01T00:00:00Z