ABCC7 p.Leu88*

ClinVar: c.263T>A , p.Leu88* ? , not provided
c.263T>C , p.Leu88Ser ? , not provided
c.263T>G , p.Leu88* ? , not provided
CF databases: c.263T>A or c.263T>G , p.Leu88* D , CF-causing
c.263T>C , p.Leu88Ser (CFTR1) ? , The mutation was detected by DNA sequencing and is a single base substitution from a thymine to a cytosine at position 395 of the CFTR gene. This results in the replacement of a leucine residue by a serine in codon 88. The patient has [delta]F508 on her other CF chromosome.

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[hide] Walkowiak J, Nousia-Arvanitakis S, Agguridaki C, Fotoulaki M, Strzykala K, Balassopoulou A, Witt M, Herzig KH
Longitudinal follow-up of exocrine pancreatic function in pancreatic sufficient cystic fibrosis patients using the fecal elastase-1 test.
J Pediatr Gastroenterol Nutr. 2003 Apr;36(4):474-8., [PMID:12658038] [PubMed]

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[hide] Ngukam A, Jacquemont ML, Souville I, Viel M, Beldjord C, Hubert D, Hughes JN, Bienvenu T
A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.
J Trop Pediatr. 2004 Aug;50(4):239-40., [PMID:15357566] [PubMed]

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[hide] Jung H, Ki CS, Koh WJ, Ahn KM, Lee SI, Kim JH, Ko JS, Seo JK, Cha SI, Lee ES, Kim JW
Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.
Korean J Lab Med. 2011 Jul;31(3):219-24. Epub 2011 Jun 28., [PMID:21779199] [PubMed]

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[hide] Macek M Jr, Mercier B, Mackova A, Miller PW, Hamosh A, Ferec C, Cutting GR
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Hum Mutat. 1997;9(2):136-47., [PMID:9067754] [PubMed]

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[hide] Savov A, Angelicheva D, Balassopoulou A, Jordanova A, Noussia-Arvanitakis S, Kalaydjieva L
Double mutant alleles: are they rare?
Hum Mol Genet. 1995 Jul;4(7):1169-71., [PMID:8528204] [PubMed]

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[hide] Zielenski J, Tsui LC
Cystic fibrosis: genotypic and phenotypic variations.
Annu Rev Genet. 1995;29:777-807., [PMID:8825494] [PubMed]

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[hide] Ravnik-Glavac M, Glavac D, Dean M
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Hum Mol Genet. 1994 May;3(5):801-7., [PMID:7521710] [PubMed]

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[hide] Savov A, Mercier B, Kalaydjieva L, Ferec C
Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing.
Hum Mol Genet. 1994 Jan;3(1):57-60., [PMID:7512860] [PubMed]

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Erratum: Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.
Ann Lab Med. 2015 Jan;35(1):185-6. doi: 10.3343/alm.2015.35.1.185., [PMID:25553309] [PubMed]

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