Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

American Journal of Human Genetics

Volumn 99, Issue 4, 2016, Pages 886-893

  Vetrini, Francesco ^a   D'Alessandro, Lisa C A ^b,c   Akdemir, Zeynep C ^c   Braxton, Alicia ^a,c   Azamian, Mahshid S ^c   Eldomery, Mohammad K ^c   Miller, Kathryn ^d   Kois, Chelsea ^d   Sack, Virginia ^d   Shur, Natasha ^d   Rijhsinghani, Asha ^d   Chandarana, Jignesh ^a   Ding, Yan ^c   Holtzman, Judy ^e   Jhangiani, Shalini N ^c   Muzny, Donna M ^c   Gibbs, Richard A ^c   Eng, Christine M ^a,c   Hanchard, Neil A ^c   Harel, Tamar ^c   Rosenfeld, Jill A ^c   Belmont, John W ^c   Lupski, James R ^c   Yang, Yaping ^a,c   more..

^a BAYLOR GENETICS   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d ALBANY MEDICAL CENTER   (United States)

^e KAISER PERMANENTE MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DISULFIDE; G PROTEIN COUPLED RECEPTOR; CYSTEINE; MEMBRANE PROTEIN; PKD1L1 PROTEIN, HUMAN;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; EXOME; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRON; LATERALITY DEFECT; MALE; MISSENSE MUTATION; PKD1L1 GENE; PRIORITY JOURNAL; PROTEIN DEGRADATION; SEQUENCE ANALYSIS; SPINE DISEASE; AMINO ACID SEQUENCE; ANIMAL; CAENORHABDITIS ELEGANS; CHEMISTRY; CONGENITAL HEART MALFORMATION; FETUS DISEASE; GENETICS; HEMISPHERIC DOMINANCE; HETEROTAXY SYNDROME; HOMOZYGOTE; MIDDLE AGED; MOLECULAR MODEL; MOUSE; MUTATION; NEWBORN; ORYZIAS; PEDIGREE; PROTEIN MOTIF; RNA SPLICING; SITUS INVERSUS;

ALLELES; AMINO ACID MOTIFS; AMINO ACID SEQUENCE; ANIMALS; CAENORHABDITIS ELEGANS; CYSTEINE; EXOME; FEMALE; FETAL DISEASES; FUNCTIONAL LATERALITY; HEART DEFECTS, CONGENITAL; HETEROTAXY SYNDROME; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; INTRONS; MALE; MEMBRANE PROTEINS; MICE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; ORYZIAS; PEDIGREE; RNA SPLICING; SITUS INVERSUS;

EID: 84991720645     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.07.011     Document Type: Article

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