A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome
about
Alpha thalassaemia-mental retardation, X linkedFRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structureTargeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex developmentATRX has a critical and conserved role in mammalian sexual differentiationFamilial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group.The molecular and cellular basis of gonadal sex reversal in mice and humans.The human sex-reversing ATRX gene has a homologue on the marsupial Y chromosome, ATRY: implications for the evolution of mammalian sex determination.
P2860
Q21203051-519FC0F5-72F0-4082-B656-6C1205717DE6Q24315656-3C2AB780-2B81-43C8-A55B-4023320E9916Q33738292-C07E2F51-DC70-4AB7-828D-19C19FEA3965Q33932185-96F4AD7A-5F23-4B33-B409-167AC81BD677Q35095022-33A8B677-7605-494B-8AD9-1A2D7774B1F0Q35238400-399FD7C9-8BB3-45E1-9CA6-8C327E55F7E4Q37005019-0C1DC277-3E70-4908-8253-DF6DDEBC6F0DQ37287404-EBDE1545-8CC6-499F-ACA5-4BDCD4FB11D2
P2860
A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome
description
1996 nî lūn-bûn
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1996年の論文
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1996年論文
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1996年論文
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1996年論文
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1996年論文
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1996年論文
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1996年论文
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1996年论文
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1996年论文
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name
A novel mutation in the putati ...... cal form of the ATR-X syndrome
@ast
A novel mutation in the putati ...... cal form of the ATR-X syndrome
@en
type
label
A novel mutation in the putati ...... cal form of the ATR-X syndrome
@ast
A novel mutation in the putati ...... cal form of the ATR-X syndrome
@en
prefLabel
A novel mutation in the putati ...... cal form of the ATR-X syndrome
@ast
A novel mutation in the putati ...... cal form of the ATR-X syndrome
@en
P2093
P2860
P1476
A novel mutation in the putati ...... cal form of the ATR-X syndrome
@en
P2093
Chaussain JL
Galacteros F
McElreavey K
P2860
P304
P407
P577
1996-06-01T00:00:00Z