A novel deep intronic COL5A1 variant in an Ehlers-Danlos syndrome family: functional characterization by minigene assay

Nature·Mar 31

This story is reported by Nature. Read what other outlets are saying below, then open the original report for full details.

Full coverage

1

Research Roundup: New research in EDS & HSD

The Ehlers Danlos Society·Apr 20

2

A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome

Nature·Sep 15

3

Gastrointestinal involvement in Ehlers–Danlos syndrome classical-like type 2 associated with a novel AEBP1 splice-site variant

Nature·May 26

4

Atypical Sotos syndrome caused by a novel splice site variant - Human Genome Variation

Nature·Nov 16

5

Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays

Nature·Feb 6

6

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type - Genetics in Medicine

Nature·Sep 16

7

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history | Genetics in Medicine

Nature·Jun 15

8

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations

Nature·Dec 21