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Similar articles for PubMed (Select 2834369)

1.
2.

Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.

Vissing H, D'Alessio M, Lee B, Ramirez F, Byers PH, Steinmann B, Superti-Furga A.

J Biol Chem. 1991 Mar 15;266(8):5244-8.

3.

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.

4.

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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7.

Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.

Superti-Furga A, Steinmann B, Ramirez F, Byers PH.

Hum Genet. 1989 May;82(2):104-8.

PMID:
2722184
8.

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
9.

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.

10.

A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.

Richards AJ, Lloyd JC, Narcisi P, Ward PN, Nicholls AC, De Paepe A, Pope FM.

Hum Genet. 1992 Jan;88(3):325-30.

PMID:
1370809
11.

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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13.

Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.

Wirtz MK, Glanville RW, Steinmann B, Rao VH, Hollister DW.

J Biol Chem. 1987 Dec 5;262(34):16376-85.

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Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.

Narcisi P, Wu Y, Tromp G, Earley JJ, Richards AJ, Pope FM, Kuivaniemi H.

Am J Med Genet. 1993 May 15;46(3):278-83.

PMID:
8098182
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