ABCMdb

PMID: 10502789

Kusic J, Radojkovic D, Cuppens H, Jaspers M, Tomic J, Savic A
Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis.
Hum Mutat. 1999 Oct;14(4):357., [PubMed]

Sentences

No. Mutations Sentence Comment

17 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys She is 118 cm high, and weighs 20 kg. 6. Homologous allele (if recessive trait): N1303K 6. Homologous allele (if recessive trait): N1303K 7. Login to comment 21 ABCC7 p.Asn1303Lys This mutation was detected using DGGE (Fanen et al., 1992) in a CF patient of Serbian descent in compound heterozygosity with the N1303K mutation. Login to comment 22 ABCC7 p.Asn1303Lys Analysis of the parents and sibling of the proband demonstrated that mother HUMAN MUTATION Mutation and Polymorphism Report #73 (1999) Online was a carrier of 525delT, while father and younger sister carried N1303K. Login to comment