Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.

Journal of medical genetics

Volumn 39, Issue 11, 2002, Pages

  Reboul, M P ^a   Bieth, E ^a   Fayon, M ^a   Biteau, N ^a   Barbier, R ^a   Dromer, C ^a   Desgeorges, M ^a   Claustres, M ^a   Bremont, F ^a   Lacombe, D ^a   Iron, A ^a  

^a HÔPITAL PELLEGRIN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CFTR PROTEIN, HUMAN; DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CHEMISTRY; CHILD; CYSTIC FIBROSIS; FRANCE; GENETICS; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PANCREAS EXOCRINE INSUFFICIENCY; PHENOTYPE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; DNA MUTATIONAL ANALYSIS; EXOCRINE PANCREATIC INSUFFICIENCY; FRANCE; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PHENOTYPE;

MLCS; MLOWN;

EID: 0036836136     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.39.11.e73     Document Type: Article

References (0)