Expanding the Molecular and Clinical Phenotype of SSR4-CDG

Human Mutation

Volumn 36, Issue 11, 2015, Pages 1048-1051

  Ng, Bobby G ^a   Raymond, Kimiyo ^b   Kircher, Martin ^c   Buckingham, Kati J ^d   Wood, Tim ^e   Shendure, Jay ^c   Nickerson, Deborah A ^c   Bamshad, Michael J ^c,d   Wong, Jonathan T S ^a   Monteiro, Fabiola Paoli ^f,g   Graham, Brett H ^h   Jackson, Sheryl ⁱ   Sparkes, Rebecca ⁱ   Scheuerle, Angela E ^j   Cathey, Sara ^e   Kok, Fernando ^g,k   Gibson, James B ^l   Freeze, Hudson H ^a,m  

^a BURNHAM INSTITUTE   (United States)

^b Mayo Clinic   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e GREENWOOD GENETIC CENTER   (United States)

^f UNIVERSITY OF CAMPINAS   (Brazil)

^g Mendelics Genomic Analysis   (Brazil)

^h BAYLOR COLLEGE OF MEDICINE   (United States)

ⁱ UNIVERSITY OF CALGARY   (Canada)

^j UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^k UNIVERSITY OF SÃO PAULO   (Brazil)

^l Section of Clinical Genetics and Metabolism'Specially for Children   (United States)

^m NONE   (United States)

more..

Author keywords

Carbohydrate deficient transferrin; Congenital disorders of glycosylation; Signal sequence receptor 4; SSR4; Translocon complex

Indexed keywords

SIGNAL SEQUENCE RECEPTOR 4; TRANSFERRIN; TRANSLOCON; UNCLASSIFIED DRUG; CALCIUM BINDING PROTEIN; CELL RECEPTOR; MEMBRANE PROTEIN; RECEPTOR; SIGNAL SEQUENCE RECEPTOR;

ARTICLE; ASIAN; BRAZILIAN; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; EUROPEAN; EXOME; GENE MUTATION; GENETIC VARIABILITY; HISPANIC; HUMAN; LOSS OF FUNCTION MUTATION; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; SEQUENCE ANALYSIS; TRANSFERRIN BLOOD LEVEL; WESTERN BLOTTING; CASE REPORT; CONGENITAL DISORDERS OF GLYCOSYLATION; DNA MUTATIONAL ANALYSIS; GENE LOCUS; GENE ORDER; GENETICS; MUTATION; X CHROMOSOMAL INHERITANCE;

CALCIUM-BINDING PROTEINS; CONGENITAL DISORDERS OF GLYCOSYLATION; DNA MUTATIONAL ANALYSIS; EXOME; GENE ORDER; GENES, X-LINKED; GENETIC LOCI; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; PHENOTYPE; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RECEPTORS, PEPTIDE;

EID: 84944168146     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22856     Document Type: Article

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