Literature DB >> 9272741

Linkage analysis in 16 families with incontinentia pigmenti.

M Jouet1, H Stewart, S Landy, J Yates, S L Yong, A Harris, C Garret, E Hatchwell, A Read, D Donnai, S Kenwrick.   

Abstract

A locus for the X-linked dominant genodermatosis incontinentia pigmenti (IP) has been linked to markers in Xq28. Here we report high lod scores for markers spanning the interval DXS52-DXYS154 using 16 families, providing further evidence for a single major X-linked IP locus.

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Year:  1997        PMID： 9272741

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  2 in total

1.  X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Authors:  S W Knight; N S Heiss; T J Vulliamy; S Greschner; G Stavrides; G S Pai; G Lestringant; N Varma; P J Mason; I Dokal; A Poustka
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  Identification of Xq22.1-23 as a region linked with hereditary recurrent spontaneous abortion in a family.

Authors:  Sahar Shekouhi; Fatemeh Baghbani; Mohammad Hasanzadeh Nazar-Abadi; Tayebeh Hamzehloie; Mohammad Reza Abbaszadegan; Nafiseh Saghafi; Reza Raoofian; Javad Zavar Reza; Shahab Ahmadzadeh; Mohammad Amin Tabatabaiefar; Majid Mojarrad
Journal:  Iran J Reprod Med       Date:  2013-08
  2 in total

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