Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

Eloisa Arbustini; Maurizia Grasso; Silvia Ansaldi; Clara Malattia; Andrea Pilotto; Emanuele Porcu; Eliana Disabella; Nicola Marziliano; Angela Pisani; Luca Lanzarini

doi:10.1002/humu.9377

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

NobleID: NI5P94W99R28S26
Persistent link: https://nobleid.org/ark:/48914/w1/20260515/175F7A2A

Type:Journal Article

0 views

Support unavailableClaim Your Authorship

Embeddable Badge

[![NobleID](https://www.nobleid.org/api/badge/175F7A2A.svg?ark=w1%2F20260515%2F175F7A2A&value=id)](https://nobleid.org/work/w1/20260515/175F7A2A)

ARK Inflections

Metadata Policy

Metadata Formats

Bibliometric Analysis

Impact metrics, research fronts, co-authorship networks →

Authors & Claims

Paper Authors

Claim authorship of this work

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

NobleID: NI5P94W99R28S26
Persistent link: https://nobleid.org/ark:/48914/w1/20260515/175F7A2A

Type:Journal Article

0 views

Support unavailableClaim Your Authorship

Embeddable Badge

[![NobleID](https://www.nobleid.org/api/badge/175F7A2A.svg?ark=w1%2F20260515%2F175F7A2A&value=id)](https://nobleid.org/work/w1/20260515/175F7A2A)

ARK Inflections

Metadata Policy

Metadata Formats

Bibliometric Analysis

Impact metrics, research fronts, co-authorship networks →

Authors & Claims

Paper Authors

Claim authorship of this work