Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency

Clinical Genetics

Volumn 88, Issue 6, 2015, Pages 542-549

  Yang, W ^a   Lee, P P W ^a   Thong, M K ^b   Ramanujam, T M ^b   Shanmugam, A ^b   Koh, M T ^b   Chan, K W ^a   Ying, D ^a   Wang, Y ^a   Shen, J J ^a   Yang, J ^a   Lau, Y L ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b UNIVERSITY OF MALAYA   (Malaysia)

Author keywords

Genotype phenotype correlation; Multiple intestinal atresias (MIA); Severe combined immunodeficiency (SCID); TTC7A; Whole exome sequencing (WES)

Indexed keywords

IMMUNOGLOBULIN; PROTEIN; TTC7A PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ARTICLE; ATRESIA; AUTOSOMAL RECESSIVE DISORDER; CYTOGENETICS; EXOME; EXON; FAMILIAL MULTIPLE INTESTINAL ATRESIA; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROESOPHAGEAL REFLUX; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; ILEOSTOMY; IMMUNOGLOBULIN BLOOD LEVEL; INTRON; KARYOTYPING; LAPAROTOMY; LYMPHOCYTE SUBPOPULATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEVERE COMBINED IMMUNODEFICIENCY; SHORT BOWEL SYNDROME; STOP CODON; TTC7A GENE; CASE REPORT; DNA SEQUENCE; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; INFANT; INTESTINE ATRESIA; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; BASE SEQUENCE; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INFANT; INTESTINAL ATRESIA; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 84946488916     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12553     Document Type: Article

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