Cloning and Characterization of an Alternatively Spliced Gene in Proximal Xq28 Deleted in Two Patients with Intersexual Genitalia and Myotubular Myopathy-Reference-Cited by-同舟云学术

Cloning and Characterization of an Alternatively Spliced Gene in Proximal Xq28 Deleted in Two Patients with Intersexual Genitalia and Myotubular Myopathy

Published:1997-05 Issue:3 Volume:41 Page:458-462
ISSN:0888-7543
Container-title:Genomics
language:en
Short-container-title:Genomics

Author:

Laporte Jocelyn,Kioschis Petra,Hu Ling-Jia,Kretz Christine,Carlsson Birgit,Poustka Annemarie,Mandel Jean Louis,Dahl Niklas

Publisher

Elsevier BV

Subject

Genetics

Reference15 articles.

1. Complete sequence of a 38.4 kb human cosmid insert containing the polymorphic marker DXS455 from Xq28;Andersson;DNA Seq.,1995

2. Isolation of genes from complex sources of mammalian genomic DNA using exon amplification;Church;Nature Genet.,1994

3. X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684);Dahl;J. Med. Genet.,1994

4. Myotubular myopathy in a girl with a deletion at Xq27–q28 and unbalanced X inactivation assigns the MTM1 gene to a 600 kb region;Dahl;Am. J. Hum. Genet.,1995

5. X-linked myotubular myopathy: Refinement of the gene to a 280 kb region with new and highly informative microsatellite markers;Hu;Hum. Genet.,1996

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