Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

Human Molecular Genetics

Volumn 5, Issue 3, 1996, Pages 351-354

  Auricchio, Alberto ^a,b   Casari, Giorgio ^a   Staiano, Annamaria ^b   Ballabio, Andrea ^a,c  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN B RECEPTOR;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHROMOSOME 10; CHROMOSOME 10Q; CHROMOSOME 13; CHROMOSOME 13Q; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; EXON; FEMALE; GENE LOCUS; GENE MUTATION; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; INBREEDING; INTESTINE OBSTRUCTION; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHOSPHORYLATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTO ONCOGENE; SCHOOL CHILD;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; HETEROZYGOTE; HIRSCHSPRUNG DISEASE; HUMANS; INFANT; ITALY; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTOR, ENDOTHELIN B; RECEPTORS, ENDOTHELIN; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0030070810     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.3.351     Document Type: Article

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