Skinner M - Search Results

1

A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy.

Harding J, Skare J, Skinner M. Harding J, et al. Among authors: skinner m. Biochim Biophys Acta. 1991 Oct 21;1097(3):183-6. doi: 10.1016/0925-4439(91)90033-6. Biochim Biophys Acta. 1991. PMID: 1932142

2

A new transthyretin mutation associated with amyloidotic vitreous opacities. Asparagine for isoleucine at position 84.

Skinner M, Harding J, Skare I, Jones LA, Cohen AS, Milunsky A, Skare J. Skinner M, et al. Ophthalmology. 1992 Apr;99(4):503-8. doi: 10.1016/s0161-6420(92)31949-9. Ophthalmology. 1992. PMID: 1350083 Free article.

3

Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.

Jones LA, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M. Jones LA, et al. Among authors: skinner m. Clin Genet. 1992 Feb;41(2):70-3. doi: 10.1111/j.1399-0004.1992.tb03635.x. Clin Genet. 1992. PMID: 1544214

4

Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy.

Jones LA, Skare JC, Harding JA, Cohen AS, Milunsky A, Skinner M. Jones LA, et al. Among authors: skinner m. Am J Hum Genet. 1991 May;48(5):979-82. Am J Hum Genet. 1991. PMID: 1850191 Free PMC article.

5

A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90.

Skare JC, Milunsky JM, Milunsky A, Skare IB, Cohen AS, Skinner M. Skare JC, et al. Among authors: skinner m. Clin Genet. 1991 Jan;39(1):6-12. doi: 10.1111/j.1399-0004.1991.tb02979.x. Clin Genet. 1991. PMID: 1997217

6

Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy.

Skare J, Yazici H, Erken E, Dede H, Cohen A, Milunsky A, Skinner M. Skare J, et al. Among authors: skinner m. Hum Genet. 1990 Nov;86(1):89-90. doi: 10.1007/BF00205182. Hum Genet. 1990. PMID: 2174830

7

A new mutation causing familial amyloidotic polyneuropathy.

Skare JC, Saraiva MJ, Alves IL, Skare IB, Milunsky A, Cohen AS, Skinner M. Skare JC, et al. Among authors: skinner m. Biochem Biophys Res Commun. 1989 Nov 15;164(3):1240-6. doi: 10.1016/0006-291x(89)91802-0. Biochem Biophys Res Commun. 1989. PMID: 2590199 Free article.

8

Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis.

Skare J, Jones LA, Myles N, Kane K, Milunsky A, Cohen A, Skinner M. Skare J, et al. Among authors: skinner m. Clin Genet. 1994 Jun;45(6):281-4. doi: 10.1111/j.1399-0004.1994.tb04030.x. Clin Genet. 1994. PMID: 7923855

9

A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing.

Connors LH, Ericsson T, Skare J, Jones LA, Lewis WD, Skinner M. Connors LH, et al. Among authors: skinner m. Biochim Biophys Acta. 1998 Sep 30;1407(3):185-92. doi: 10.1016/s0925-4439(98)00037-4. Biochim Biophys Acta. 1998. PMID: 9748569 Free article.

10

Amyloidogenic and non-amyloidogenic transthyretin Asn 90 variants.

Alves IL, Almeida MR, Skare J, Skinner M, Kurose K, Sakaki Y, Costa PP, Saraiva MJ. Alves IL, et al. Among authors: skinner m. Clin Genet. 1992 Jul;42(1):27-30. doi: 10.1111/j.1399-0004.1992.tb03131.x. Clin Genet. 1992. PMID: 1355416

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