Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients-Reference-Cited by-同舟云学术

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Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients

Published:2021-06-15 Issue:8 Volume:42 Page:1015-1029
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Rajeshwari Mohan¹^ORCID,Karthi Sellamuthu²^ORCID,Singh Reetu¹^ORCID,Efthymiou Stephanie³^ORCID,Gowda Vykuntaraju K.⁴^ORCID,Varalakshmi Perumal¹^ORCID,Srinivasan Varunvenkat M.⁴^ORCID,Houlden Henry³^ORCID,Keller Markus A.⁵^ORCID,Rizzo William B.⁶^ORCID,Ashokkumar Balasubramaniem¹^ORCID

Affiliation:

1. School of Biotechnology Madurai Kamaraj University Madurai India

2. Department of Biochemistry & Molecular Biology, Sealy Center for Molecular Medicine UTMB Gavelston Texas USA

3. Department of Neuromuscular Disorders UCL Institute of Neurology London UK

4. Department of Pediatric Neurology Indira Gandhi Institute of Child Health Bangalore India

5. Human Genetics Section Medical University of Innsbruck Innsbruck Austria

6. Division of Inherited Metabolic Diseases University of Nebraska Medical Center Omaha Nebraska USA

Funder

Lady Tata Memorial Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24236

Reference28 articles.

1.

Sjogren-Larsson Syndrome: Mechanisms and Management

2. Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability

3. Speech-language performance in Sjögren-Larsson syndrome

4. Ichthyosis in the Sjögren-Larsson syndrome

5. Depletion of Alcohol (Hexanol) Dehydrogenase Activity in the Epidermis and Jejunal Mucosa in Sjögren-Larsson Syndrome

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