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Similar articles for PubMed (Select 1757960)

1.

Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.

Sillence DO, Chiodo AA, Campbell PE, Cole WG.

J Med Genet. 1991 Dec;28(12):840-5.

2.

A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

Cole WG, Chiodo AA, Lamande SR, Janeczko R, Ramirez F, Dahl HH, Chan D, Bateman JF.

J Biol Chem. 1990 Oct 5;265(28):17070-7.

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Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH.

Am J Hum Genet. 2001 Nov;69(5):989-1001. Epub 2001 Sep 27.

8.

A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome.

Okita H, Ikeda Y, Mitsuhashi Y, Namikawa H, Kitamura Y, Hamasaki Y, Yamazaki S, Hatamochi A.

Arch Dermatol Res. 2010 Jul;302(5):395-9. doi: 10.1007/s00403-009-0970-6. Epub 2009 Jun 20.

PMID:
19543901
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Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

Weil D, Bernard M, Combates N, Wirtz MK, Hollister DW, Steinmann B, Ramirez F.

J Biol Chem. 1988 Jun 25;263(18):8561-4.

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An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.

Nicholls AC, Oliver JE, McCarron S, Harrison JB, Greenspan DS, Pope FM.

J Med Genet. 1996 Nov;33(11):940-6. Erratum in: J Med Genet 1997 Jan;334(1):87.

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Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.

Tsipouras P, Byers PH, Schwartz RC, Chu ML, Weil D, Pepe G, Cassidy SB, Ramirez F.

Hum Genet. 1986 Sep;74(1):41-6.

PMID:
2875936
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