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Lamin a Truncation in Hutchinson-Gilford Progeria

by Bernard, Rafaëlle , Lyonnet, Stanislas , De Sandre-Giovannoli, Annachiara , Navarro, Claire , Le Merrer, Martine , Lévy, Nicolas , Amiel, Jeanne , Boccaccio, Irène , Munnich, Arnold , Stewart, Colin L. , Cau, Pierre

in Alleles / Amino acids / Biological and medical sciences / Brevia / Cell Nucleus - ultrastructure / Child / Children & youth / Coding / Dermatology / Exons / Female / Genetic aspects / Genetic mutation / Genomics / Growth disorders / Humans / Lamin Type A - analysis / Lamin Type A - chemistry / Lamin Type A - genetics / Lamins / Lymphocytes / Lymphocytes - chemistry / Lymphocytes - ultrastructure / Medical sciences / Mutation / Polymorphism, Genetic / Progeria / Progeria - blood / Progeria - genetics / RNA Splicing / RNA, Messenger - genetics / Sequence Deletion / Splicing / Transcription, Genetic / Transcripts (Written Records) / Tumors of the skin and soft tissue. Premalignant lesions

2003

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Lamin a Truncation in Hutchinson-Gilford Progeria

2003

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2003

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Journal Article

Lamin a Truncation in Hutchinson-Gilford Progeria

Bernard, Rafaëlle,

Lyonnet, Stanislas,

De Sandre-Giovannoli, Annachiara,

Navarro, Claire,

Le Merrer, Martine,

Lévy, Nicolas,

Amiel, Jeanne,

Boccaccio, Irène,

Munnich, Arnold,

Stewart, Colin L.,

Cau, Pierre

2003

Overview

Hutchinson-Gilford progeria syndrome (HGPS) is an exceedingly rare but typical progeria, clinical characterized by postnatal growth retardation, midface hypoplasia, micrognathia, premature athersclerosis, absence of subcutaneous fat, alopecia, and generalized osteodysplasia with osteolysis and pathologic fractures. A genomic and transcriptional analysis of LMNA in children affected with HGPS is provided.

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Publisher

American Association for the Advancement of Science,The American Association for the Advancement of Science

Subject

Alleles

/ Amino acids

/ Biological and medical sciences

/ Brevia

/ Cell Nucleus - ultrastructure

/ Child

/ Children & youth