The molecular basis of partial penetrance of splicing mutations in cystic fibrosis

American Journal of Human Genetics

Volumn 60, Issue 1, 1997, Pages 87-94

  Rave Harel, Naama ^a   Kerem, Eitan ^b   Nissim Rafinia, Malka ^a   Madjar, Igal ^c   Goshen, Ran ^a   Augarten, Arie ^c   Rahat, Ayelet ^a   Hurwitz, Arye ^d   Darvasi, Ariel ^a   Kerem, Batsheva ^a  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

^c SHEBA MEDICAL CENTER   (Israel)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; AGENESIS; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; EPIDIDYMIS; FEMALE; FORCED EXPIRATORY VOLUME; GENE EXPRESSION; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN TISSUE; MALE; MALE INFERTILITY; NOSE MUCOSA; PEDIGREE; PENETRANCE; PRIORITY JOURNAL; RNA SPLICING; VAS DEFERENS;

ADOLESCENT; ADULT; ALLELES; CYSTIC FIBROSIS; EPIDIDYMIS; EPITHELIUM; FEMALE; HUMANS; MALE; MUTATION; NASAL MUCOSA; PHENOTYPE; RESPIRATORY FUNCTION TESTS; RNA SPLICING; TRANSCRIPTION, GENETIC;

EID: 0031037337     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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