SCOPUS 정보 검색 플랫폼

Volumn 111, Issue 1, 2002, Pages 27-30

Exclusion of PITX2 mutations as a major cause of CHARGE association

(8) Martin, Donna M a Probst, Frank J a Fox, Sharon E a Schimmenti, Lisa A b Semina, Elena V c Hefner, Margaret A d Belmont, John W e Camper, Sally A a

a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL (United States)

b UNIVERSITY OF CALIFORNIA (United States)

c UNIVERSITY OF IOWA (United States)

d SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE (United States)

e BAYLOR COLLEGE OF MEDICINE (United States)

Author keywords

CHARGE; Mutation; PITX2; Sequence polymorphism

Indexed keywords

HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PITX2; UNCLASSIFIED DRUG; NUCLEAR PROTEIN;

ARTICLE; CHOANA ATRESIA; CLINICAL ARTICLE; COLOBOMA; CONGENITAL HEART DISEASE; CRANIOFACIAL MALFORMATION; DNA SEQUENCE; EAR MALFORMATION; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC POLYMORPHISM; GROWTH RETARDATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SYNDROME CHARGE; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; EAR; GENE EXPRESSION REGULATION; GENETICS; GENITAL SYSTEM; GROWTH DISORDER; HEARING IMPAIRMENT; MULTIPLE MALFORMATION SYNDROME; PHYSIOLOGY; SYNDROME;

ABNORMALITIES, MULTIPLE; CHOANAL ATRESIA; COLOBOMA; DEAFNESS; DNA MUTATIONAL ANALYSIS; EAR; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENITALIA; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HOMEODOMAIN PROTEINS; HUMAN; MALE; PHENOTYPE; POLYMORPHISM (GENETICS); SUPPORT, U.S. GOV'T, P.H.S.; SYNDROME; TRANSCRIPTION FACTORS; HUMANS; NUCLEAR PROTEINS; POLYMORPHISM, GENETIC;

GENETTA;

EID: 4243288689 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.10473 Document Type: Article

Times cited : (19)

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