Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome

American Journal of Human Genetics

Volumn 90, Issue 1, 2012, Pages 76-85

  Kalay, Ersan ^a   Sezgin, Orhan ^a   Chellappa, Vasant ^b   Mutlu, Mehmet ^a   Morsy, Heba ^c   Kayserili, Hulya ^d   Kreiger, Elmar ^e   Cansu, Aysegul ^a   Toraman, Bayram ^a   Abdalla, Ebtesam Mohammed ^c   Aslan, Yakup ^a   Pillai, Shiv ^b   Akarsu, Nurten A ^f  

^a KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

^b HARVARD MEDICAL SCHOOL   (United States)

^c ALEXANDRIA UNIVERSITY   (Egypt)

^d ISTANBUL UNIVERSITY   (Turkey)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; ISOLEUCINE; LUCIFERASE; PROTEIN SERINE THREONINE KINASE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOASSAY; CATALYSIS; CELL DIFFERENTIATION; CHROMOSOME 21Q; CRANIOFACIAL DEVELOPMENT; ENZYME ACTIVITY; EPITHELIUM; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; KERATINOCYTE; LIMB DEVELOPMENT; MISSENSE MUTATION; MOLECULAR MODEL; NONHUMAN; PHENOTYPE; POPLITEAL PTERYGIUM SYNDROME; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STABILITY; REPORTER GENE; RIPK4 GENE; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; WEBBED NECK;

ADOLESCENT; ANIMALS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 21; CLEFT LIP; CLEFT PALATE; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NF-KAPPA B; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; PTERYGIUM; SKIN ABNORMALITIES;

MUS;

EID: 84855830157     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.11.014     Document Type: Article

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