✦ LIBER ✦

Efficient strategy for the detection of mutations in acrogeric Ehlers-danlos syndrome type IV

✍ Scribed by P. H. Johnson; A. J. Richards; J. C. Lloyd; F. M. Pope; D. A. Hopkinson

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 668 KB
Volume: 6
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380060408

No coin nor oath required. For personal study only.

✦ Synopsis

cDNA encoding the C-terminal domain (nt2283 to 3714) of type 111 collagen was amplified by PCR in five overlapping products and examined for mutations in 13 patients with Ehlers-Danlos syndrome type 1V (EDS 1V) with uncharacterised lesions and in five control patients with known single base mutations. Six different point mutations were detected by denaturing gradient gel electrophoresis (DGGE), in addition to thase in the known controls. Four of seven patients who had no point mutations in this region were shown to lack complete exons from their amplified cDNA. Mutations were detected in all patients with typical or acrogeric EDS IV, but only in one of four individuals with the atypical form of the disease. (b 1995 w i y & s s , be.

📜 SIMILAR VOLUMES

Substitution of valine for glycine 793 i

Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV

✍ Gerard Tromp; Anne De Paepe; Lieve Nuytinck; Swarna Madhatheri; Helena Kuivaniem 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 234 KB

Single base mutation that substitutes gl

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

✍ Narcisi, Paolo ;Wu, Yuli ;Tromp, Gerard ;Earley, James J ;Richards, Allan J. ;Po 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 638 KB

Characterization of 11 new mutations in

Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: Preliminary comparison of RNase cleavage, EMC and DHPLC assays

✍ Cecilia Giunta; Beat Steinmann 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB 👁 2 views

A novel G499D substitution in the α1(III

A novel G499D substitution in the α1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV

✍ Joel McGrory; Teresa Costa; William G. Cole 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB 👁 1 views

Cmvc fur the Srudy of HcriTitabIe Cunnectiuc Tissue Discnrcs, Division of Orthoj~&~cs (1. M., W. G. C.) ; Division of Clinical Cmetic5 (T. C. ), Hospitnl fin Sick Childrm, Turonm, Ontnsio, C a d M5G I X8; Fax: 4 16-8 13-64 I4 Cmnmunicntld b~ Charles R. Sn'um

Temperature sensitivity of aberrant RNA

Temperature sensitivity of aberrant RNA splicing with a mutation in theG+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers–Danlos syndrome type IV

✍ Yuli Wu; Helena Kuivaniemi; Gerard Tromp; Deike Strobel; Anne M. Romanic; Darwin 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 828 KB

## Communicated by k e r n Peltonen A single-base mutation in intron 37 of the gene for type 111 procollagen (COL3A1) was found in a proband with the type IV variant of Ehlers-Danlos syndrome. Probeeprotection experiments with S 1 nuclease and RNA from fibroblasts incubated at 37°C demonstrated th

Mutational analysis of the lysyl hydroxy

Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: Prenatal exclusion of this disorder in one family

✍ Heather N. Yeowell; Linda C. Walker; Brent Farmer; Jari Heikkinen; Raili Myllyla 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 141 KB 👁 2 views