CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome

Journal article

Peer reviewed

Cheryl L Maslen, Darcie Babcock, Susan W Robinson, Lora J H Bean, Kenneth J Dooley, Virginia L Willour and Stephanie L Sherman

American journal of medical genetics. Part A, Vol.140(22), pp.2501-2505

11/15/2006

DOI: 10.1002/ajmg.a.31494

PMID: 17036335

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no abstract | research letter

Cell Adhesion Molecules - chemistry

Protein Structure, Tertiary

Amino Acid Sequence

Cell Adhesion Molecules - genetics

Extracellular Matrix Proteins - chemistry

Exons

Extracellular Matrix Proteins - genetics

Humans

Molecular Sequence Data

Heart Septal Defects - etiology

Sequence Homology, Amino Acid

Point Mutation

Down Syndrome - genetics

Models, Genetic

Heart Septal Defects - genetics

Amino Acid Substitution

Title: Subtitle: CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome
Creators: Cheryl L Maslen - Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland 97239, USA. maslenc@ohsu.edu
Darcie Babcock
Susan W Robinson
Lora J H Bean
Kenneth J Dooley
Virginia L Willour
Stephanie L Sherman
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.140(22), pp.2501-2505
Publisher: United States
DOI: 10.1002/ajmg.a.31494
PMID: 17036335
ISSN: 1552-4825
eISSN: 1552-4833
Grant note: 5 M01 RR00334 / NCRR NIH HHS M01 RR00039 / NCRR NIH HHS R01 HD38979 / NICHD NIH HHS P01 HD24605 / NICHD NIH HHS F32 HD046337 / NICHD NIH HHS
Language: English
Date published: 11/15/2006
Academic Unit: Psychiatry; Iowa Neuroscience Institute
Record Identifier: 9984070871902771

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