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Items: 12

1.

Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt).

Sikora JL, Logue MW, Chan GG, Spencer BH, Prokaeva TB, Baldwin CT, Seldin DC, Connors LH.

Hum Genet. 2015 Jan;134(1):111-21. doi: 10.1007/s00439-014-1499-0. Epub 2014 Nov 4.

3.

Cysteine 10 is a key residue in amyloidogenesis of human transthyretin Val30Met.

Takaoka Y, Ohta M, Miyakawa K, Nakamura O, Suzuki M, Takahashi K, Yamamura K, Sakaki Y.

Am J Pathol. 2004 Jan;164(1):337-45.

4.

Evidence for early cytotoxic aggregates in transgenic mice for human transthyretin Leu55Pro.

Sousa MM, Fernandes R, Palha JA, Taboada A, Vieira P, Saraiva MJ.

Am J Pathol. 2002 Nov;161(5):1935-48.

5.

A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis.

Jenne DE, Denzel K, Bl├Ątzinger P, Winter P, Obermaier B, Linke RP, Altland K.

Proc Natl Acad Sci U S A. 1996 Jun 25;93(13):6302-7.

6.

Two RFLPs associated with the human prealbumin gene (PALB).

Yoshioka K, Yoshioka N, Nakabeppu K, Sakaki Y.

Nucleic Acids Res. 1986 Apr 11;14(7):3147. No abstract available.

7.

Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.

Furuya H, Yoshioka K, Sasaki H, Sakaki Y, Nakazato M, Matsuo H, Nakadai A, Ikeda S, Yanagisawa N.

J Clin Invest. 1987 Dec;80(6):1706-11.

9.

A DNA test for Indiana/Swiss hereditary amyloidosis (FAP II).

Wallace MR, Conneally PM, Benson MD.

Am J Hum Genet. 1988 Aug;43(2):182-7.

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