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A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene


, : A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Heredity 44(4): 238-240


US$29.90

PMID: 7520022


Other references

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Underwood, Aj, 1988: Design and analysis of field experiments on competitive interactions affecting behaviour of intertidal animals. NATO ASI Advanced Science Institutes Series Series A Life Sciences: 333-357 (151)

Funahashi, Hiroaki, 2002: Effect of methyl-beta-cyclodextrin and fertilization promoting peptide on capacitation of boar spermatozoa in a protein-free medium. The present study was undertaken to examine the effect of methyl-beta-cyclodextrin (MBCD) and fertilization promoting peptide (FPP; pGlu-Glu-ProNH2) on the capacitation and acrosome reaction of boar spermatozoa in a protein-free medium. After wash...

Nagahama, Y., 1987: Gonadotropin action on gametogenesis and steroidogenesis in teleost gonads. The control of vitellogenesis, oocyte maturation and spermiation by gonadotropins, and the action of gonadotropins on the production of oestradiol-17 beta and 17 alpha ,20 beta -dihydroxy-4-pregnen-3-one in teleost fish are reviewed, with particul...

Huang, X.F.; Compans, R.W.; Chen, S.; Lamb, R.A.; Arvan, P., 1997: Polarized apical targeting directed by the signal/anchor region of simian virus 5 hemagglutinin-neuraminidase. To examine the possibility of independent cytoplasmic/transmembrane domain-based apical sorting, we have investigated paramyxovirus SV5 hemagglutinin-neuraminidase (HN), a type II membrane protein with a small N-terminal signal/anchor region. In S...

Weetman, A.P.; Smallridge, R.C.; Nutman, T.B.; Burman, K.D., 1987: Persistent thyroid autoimmunity after subacute thyroiditis. Subacute (de Quervain's) thyroiditis (SAT) is accompanied by temporary abnormalities in thyroid function and, in a minority of patients, by transient thyroglobulin and thyroid microsome autoantibody formation. In this report we have examined...

Primeau, R., 1968: Electrocardiographic report: acute pericarditis. L'union Medicale du Canada 97(3): 334-336

Osadchii, N.I.; Nosenko, V.I., 1970: Sugar-beet rotations in the E. Ukraine. In trials during 2 years, winter wheat cv. Mironovskaya 808 grown after fallow which was given 20 t f.y.m./ha have the highest average yields of 41.7 hkg grain/ha, followed by 39.6, 35.2, 34, 31.8 and 25.7 hkg where wheat was sown after fallow giv...

Manabe, T.; Kato, M.; Ueno, T.; Kawasaki, K., 2014: Flagella proteins contribute to the production of outer membrane vesicles from Escherichia coli W3110. Gram-negative bacteria, including Escherichia coli, release outer membrane vesicles (OMVs) that are derived from the bacterial outer membrane. OMVs contribute to bacterial cell-cell communications and host-microbe interactions by delivering compon...

Liptrap, R.M.; McNally, P.J., 1977: Effect of the uterus on induced cystic ovarian follicles in the sow. Large cystic ovarian follicles, induced in sows by daily i/m injections of corticotrophin during the follicular phase of the oestrous cycle, persisted after removal of both uterine horns, and in the ipsilateral ovary after removal of one horn, whi...