B

A

BLOCH-ZUPAN , A.

Last name: BLOCH-ZUPAN

First name: A.

July 2013 (v1)

Journal article

Metadata-only

Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta

Gasse, B. Karayigit, E. Mathieu, E.

In this article, we focus on hypomaturation autosomal-recessive-type amelogenesis imperfecta (type IIA2) and describe 2 new causal Matrix metalloproteinase 20 (MMP20) mutations validated in two unrelated families: a missense mutation p.T130I at the expected homozygous state, and a compound heterozygous mutation having the same mutation combined...

Uploaded on: February 28, 2023