✦ LIBER ✦

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

✍ Scribed by Ulrike Schwarze; Wouter I. Schievink; Elizabeth Petty; Michael R. Jaff; Dusica Babovic-Vuksanovic; Kenneth J. Cherry; Melanie Pepin; Peter H. Byers

Book ID: 117853734
Publisher: American Society of Human Genetics
Year: 2001
Tongue: English
Weight: 558 KB
Volume: 69
Category: Article
ISSN: 0002-9297
DOI: 10.1086/324123

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Ehlers-Danlos syndrome type IV: cosegreg

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

✍ P. Tsipouras; P. H. Byers; R. C. Schwartz; Mon-Li Chu; Dominique Weil; Guglielmi 📂 Article 📅 1986 🏛 Springer 🌐 English ⚖ 579 KB

Ehlers-Danlos syndrome (EDS) type IV is a rare and catastrophic genetic disorder of the connective tissue. Individuals from two families with this disorder were studied for a restriction fragment length polymorphism (RFLP) associated with the COL3A1 gene. Our results suggested cosegregation of the E

A glycine (415)-to-serine substitution r

A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV

✍ David W. Anderson; Smita Thakker-Varia; Gerard Tromp; Helena Kuivaniemi; Catheri 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 71 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

Exclusion of COL1A1, COL1A2, and COL3A1

Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family

✍ Boris P. Sokolov; Alexander N. Prytkov; Gerard Tromp; Robert G. Knowlton; Darwin 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 580 KB

Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations sugg

Inheritance of an RNA splicing mutation

Inheritance of an RNA splicing mutation (G + 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV

✍ Durham, Joseph R. 📂 Article 📅 1991 🏛 Elsevier Science 🌐 English ⚖ 135 KB

Single Base Mutation in the Type III Pro

Single Base Mutation in the Type III Procollagen Gene That Converts the Codon for Glycine 883 to Aspartate in a Proband with Mild Symptoms of Ehlers-Danlos Syndrome IV

✍ GERARD TROMP; HELENA KUIVANIEMI; CATHERINE STOLLE; F. MICHAEL POPE; DARWIN J. PR 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB