Many ΔF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation

被引：8

作者：

Boyne, J

Evans, S

Pollitt, RJ

Taylor, CJ

Dalton, A

机构：

[1] Ctr Human Genet, N Trent Mol Genet Serv, Sheffield S10 5DN, S Yorkshire, England

[2] Sheffield Childrens Hosp, Neonatal Screening Lab, Sheffield S10 2TH, S Yorkshire, England

[3] Univ Southampton, Sheffield Childrens Hosp, Dept Paediat, Sheffield S10 2TH, S Yorkshire, England

来源：

JOURNAL OF MEDICAL GENETICS | 2000年 / 37卷 / 07期

关键词：

D O I：

10.1136/jmg.37.7.543

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：543 / 547

页数：5

共 28 条

[1] IDENTIFICATION OF 3 NOVEL CYSTIC-FIBROSIS MUTATIONS IN A SAMPLE OF ITALIAN CYSTIC-FIBROSIS PATIENTS [J].

AUDREZET, MP ;

NOVELLI, G ;

MERCIER, B ;

SANGIUOLO, F ;

MACERATESI, P ;

FEREC, C ;

DALLAPICCOLA, B .

HUMAN HEREDITY, 1993, 43 (05) :295-300

[2]

BRAEKELEER MD, 1996, MOL HUM REPROD, V9, P669

[3] CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test [J].

Castellani, C ;

Bonizzato, A ;

Mastella, G .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (04) :297-301

[4] MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS [J].

CHILLON, M ;

CASALS, T ;

MERCIER, B ;

BASSAS, L ;

LISSENS, W ;

SILBER, S ;

ROMEY, MC ;

RUIZROMERO, J ;

VERLINGUE, C ;

CLAUSTRES, M ;

NUNES, V ;

FEREC, C ;

ESTIVILL, X .

NEW ENGLAND JOURNAL OF MEDICINE, 1995, 332 (22) :1475-1480

[5] Frequency of intron 8 CFTR polythymidine sequence variant in neonatal blood specimens [J].

Chin, S ;

Ranieri, E ;

Gerace, RL ;

Nelson, PV ;

Carey, WF .

LANCET, 1997, 350 (9088) :1368-1369

[6] FAMILIAL CONCORDANCE OF PANCREATIC FUNCTION IN CYSTIC-FIBROSIS [J].

COREY, M ;

DURIE, P ;

MOORE, D ;

FORSTNER, G ;

LEVISON, H .

JOURNAL OF PEDIATRICS, 1989, 115 (02) :274-277

[7]

COREY M, 1984, Journal of Pediatric Gastroenterology and Nutrition, V3, pS99, DOI 10.1097/00005176-198400031-00016

[8] Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes - The polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation [J].

Cuppens, H ;

Lin, W ;

Jaspers, M ;

Costes, B ;

Teng, H ;

Vankeerberghen, A ;

Jorissen, M ;

Droogmans, G ;

Reynaert, I ;

Goossens, M ;

Nilius, B ;

Cassiman, JJ .

JOURNAL OF CLINICAL INVESTIGATION, 1998, 101 (02) :487-496

[9] CFTR HAPLOTYPE BACKGROUNDS ON NORMAL AND MUTANT CFTR GENES [J].

CUPPENS, H ;

TENG, H ;

RAEYMAEKERS, P ;

DEBOECK, C ;

CASSIMAN, JJ .

HUMAN MOLECULAR GENETICS, 1994, 3 (04) :607-614

[10] MULTIPLE MUTATIONS IN HIGHLY CONSERVED RESIDUES ARE FOUND IN MILDLY AFFECTED CYSTIC-FIBROSIS PATIENTS [J].

DEAN, M ;

WHITE, MB ;

AMOS, J ;

GERRARD, B ;

STEWART, C ;

KHAW, KT ;

LEPPERT, M .

CELL, 1990, 61 (05) :863-870

← 1 2 3 →