Mutation analysis of the M6b gene in patients with Rett syndrome

Vinodh Narayanan; Shari Olinsky; Elizabeth Dahle; Sakkubai Naidu; Huda Y. Zoghbi

doi:10.1002/(SICI)1096-8628(19980630)78:2<165::AID-AJMG13>3.0.CO;2-L

Mutation analysis of the M6b gene in patients with Rett syndrome

Vinodh Narayanan, Shari Olinsky, Elizabeth Dahle, Sakkubai Naidu, Huda Y. Zoghbi

Kennedy Krieger Institute

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

Abstract

Human Xp22.2 has been proposed as a candidate region for the Rett syndrome (RTT) gene. M6b, a member of the proteolipid protein gene family, was mapped to Xp22.2 within one of the RTT candidate regions. In this article we describe the structure of the M6b gene, refine the physical mapping of M6b between markers DXS69E and DXS414, and present the results of mutation analysis of the M6b gene in patients with RTT. The data from mutation analysis on 55 RTT patients make it very unlikely that M6b is involved in RTT.

Original language	English (US)
Pages (from-to)	165-168
Number of pages	4
Journal	American journal of medical genetics
Volume	78
Issue number	2
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19980630)78:2<165::AID-AJMG13>3.0.CO;2-L
State	Published - Jun 30 1998

Keywords

M6b gene
Rett syndrome
Xp22.2

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/(SICI)1096-8628(19980630)78:2<165::AID-AJMG13>3.0.CO;2-L

Cite this

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abstract = "Human Xp22.2 has been proposed as a candidate region for the Rett syndrome (RTT) gene. M6b, a member of the proteolipid protein gene family, was mapped to Xp22.2 within one of the RTT candidate regions. In this article we describe the structure of the M6b gene, refine the physical mapping of M6b between markers DXS69E and DXS414, and present the results of mutation analysis of the M6b gene in patients with RTT. The data from mutation analysis on 55 RTT patients make it very unlikely that M6b is involved in RTT.",

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AU - Olinsky, Shari

AU - Dahle, Elizabeth

AU - Naidu, Sakkubai

AU - Zoghbi, Huda Y.

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AB - Human Xp22.2 has been proposed as a candidate region for the Rett syndrome (RTT) gene. M6b, a member of the proteolipid protein gene family, was mapped to Xp22.2 within one of the RTT candidate regions. In this article we describe the structure of the M6b gene, refine the physical mapping of M6b between markers DXS69E and DXS414, and present the results of mutation analysis of the M6b gene in patients with RTT. The data from mutation analysis on 55 RTT patients make it very unlikely that M6b is involved in RTT.

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Mutation analysis of the M6b gene in patients with Rett syndrome

Abstract

Keywords

ASJC Scopus subject areas

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