Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome (multiple letters)

American Journal of Human Genetics

Volumn 66, Issue 5, 2000, Pages 1721-1722

  Buddles, Mark R H ^a   Donne, Rosemary L ^a,b   Richards, Anna ^a,b   Goodship, Judith ^a   Goodship, Timothy H J ^b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENT FACTOR H; DISULFIDE; DNA; NUCLEOTIDE; PROTEIN;

EXON; GENE; GENE MUTATION; HEMOLYTIC UREMIC SYNDROME; HUMAN; LETTER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0033927532     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302877     Document Type: Letter

References (6)

1. BH Ault BZ Schmidt NL Fowler CE Kashtan AE Ahmed BA Vogt HR Colten Human factor H deficiency: mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism J Biol Chem 272 1997 25168 25175
2. J Janatova KB Reid AC Willis Disulfide bonds are localized within the short consensus repeat units of complement regulatory proteins: C4b-binding protein Biochemistry 28 1989 4754 4761
3. BZ Schmidt NL Fowler T Hidvegi DH Perlmutter HR Colten Disruption of disulfide bonds is responsible for impaired secretion in human complement factor H deficiency J Biol Chem 274 1999 11782 11788
4. P Warwicker THJ Goodship RL Donne Y Pirson A Nicholls RM Ward JA Goodship Genetic studies into inherited and sporadic haemolytic uraemic syndrome Kidney Int 53 1998 836 844
5. L Ying Y Katz M Schlesinger R Carmi H Shalev N Haider G Beck Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome Am J Hum Genet 65 1999 1538 1546
6. PF Zipfel C Skerka Complement factor H and related proteins: an expanding family of complement-regulatory proteins? Immunol Today 15 1994 121 126