Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family-Reference-Cited by-同舟云学术

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Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

Published:1995-07 Issue:7 Volume:15 Page:647-654
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat. Diagn.

Author:

McGrath John A.,McMillan James R.,Dunnill M. Giles S.,Pulkkinen Leena,Christiano Angela M.,Rodeck Charles H.,Eady Robin A. J.,Uitto Jouni

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Reference40 articles.

1. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ–5)

2. A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa

3. A new nomenclature for the laminins

4. Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

5. DNA-Based Prenatal Diagnosis of Heritable Skin Diseases

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1. An Unusual Case Report of Dystrophica Epidermolysis Bullosa in a Child;Journal of Evolution of Medical and Dental Sciences;2021-09-13

2. Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa;Medicine;2018-12

3. Epidermolysis bullosa pruriginosa a clinico-pathological study in an index case, highlighting its affliction in 11 of 27 member of the family;Journal of Dermatology & Dermatologic Surgery;2017-07

4. Epidermolysis Bullosa;Atlas of Genetic Diagnosis and Counseling;2017

5. Epidermolysis Bullosa;Atlas of Genetic Diagnosis and Counseling;2016

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