De novo mutations in monilethrix

Experimental Dermatology

Volumn 12, Issue 6, 2003, Pages 882-885

  Horev, Liran ^a   Djabali, Karima ^b   Green, Jack ^c   Sinclair, Rodney ^c   Martinez Mir, Amalia ^b   Ingber, Arieh ^a   Christiano, Angela M ^b   Zlotogorski, Abraham ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c ST VINCENT S HOSPITAL   (Australia)

Author keywords

De novo mutation; Hair; Keratins; Monilethrix

Indexed keywords

KERATIN; KERATIN HHB1; KERATIN HHB3; KERATIN HHB6; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; DNA HELIX; FAMILIAL DISEASE; GENE MUTATION; HAIR DISEASE; HUMAN; HYPERKERATOSIS; MICROSATELLITE MARKER; MISSENSE MUTATION; MONILETHRIX; PROTEIN MOTIF; SCALP HAIR; SEQUENCE ANALYSIS;

AMINO ACID MOTIFS; DNA MUTATIONAL ANALYSIS; EXONS; GENOTYPE; HAIR DISEASES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERKERATOSIS, EPIDERMOLYTIC; KERATINS; LYSINE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA;

EID: 0346339843     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0906-6705.2003.00022.x     Document Type: Article

References (18)

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